Lucinda Antonacci-Fulton

2025

Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk

Regeneron Genetics Center & NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Mar 2025, In: Nature Genetics. 57, 3, p. 548-562 15 p., e020163.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

2024

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

Trans-Omics for Precision Medicine (TOPMed) program, The INVENT Consortium, de Vries, P. S., Reventun, P., Brown, M. R., Heath, A. S., Huffman, J. E., Le, N. Q., Bebo, A., Brody, J. A., Temprano-Sagrera, G., Raffield, L. M., Ozel, A. B., Thibord, F., Jain, D., Lewis, J. P., Rodriguez, B. A. T., Pankratz, N., Taylor, K. D. & Polasek, O. & 182 others, Chen, M. H., Yanek, L. R., Carrasquilla, G. D., Marioni, R. E., Kleber, M. E., Trégouët, D. A., Yao, J., Li-Gao, R., Joshi, P. K., Trompet, S., Martinez-Perez, A., Ghanbari, M., Howard, T. E., Reiner, A. P., Arvanitis, M., Ryan, K. A., Bartz, T. M., Rudan, I., Faraday, N., Linneberg, A., Ekunwe, L., Davies, G., Delgado, G. E., Suchon, P., Guo, X., Rosendaal, F. R., Klaric, L., Noordam, R., van Rooij, F., Curran, J. E., Wheeler, M. M., Osburn, W. O., O'Connell, J. R., Boerwinkle, E., Beswick, A., Psaty, B. M., Kolcic, I., Souto, J. C., Becker, L. C., Hansen, T., Doyle, M. F., Harris, S. E., Moissl, A. P., Deleuze, J. F., Rich, S. S., van Hylckama Vlieg, A., Campbell, H., Stott, D. J., Soria, J. M., de Maat, M. P. M., Almasy, L., Brody, L. C., Auer, P. L., Abe, N., Abecasis, G., Aguet, F., Albert, C., Alonso, A., Ament, S., Anderson, P., Anugu, P., Applebaum-Bowden, D., Ardlie, K., Arking, D., Arnett, D. K., Ashley-Koch, A., Aslibekyan, S., Assimes, T., Auer, P., Avramopoulos, D., Ayas, N., Balasubramanian, A., Barnard, J., Barnes, K., Barr, R. G., Barron-Casella, E., Barwick, L., Beaty, T., Beck, G., Becker, D., Becker, L., Beer, R., Beitelshees, A., Benjamin, E., Benos, T., Bezerra, M., Bielak, L., Bis, J., Blackwell, T., Blangero, J., Blue, N., Bowden, D. W., Bowler, R., Brody, J., Broeckel, U., Broome, J., Brown, D., Bunting, K., Burchard, E., Bustamante, C., Buth, E., Cade, B., Cardwell, J., Carey, V., Carrier, J., Carson, A. P., Carty, C., Casaburi, R., Casas Romero, J. P., Casella, J., Castaldi, P., Chaffin, M., Chang, C., Chang, Y. C., Chasman, D., Chavan, S., Chen, B. J., Chen, W. M., Ida Chen, Y. D., Cho, M., Choi, S. H., Chuang, L. M., Chung, M., Chung, R. H., Clish, C., Comhair, S., Conomos, M., Cornell, E., Correa, A., Crandall, C., Crapo, J., Cupples, L. A., Curran, J., Curtis, J., Custer, B., Damcott, C., Darbar, D., David, S., Davis, C., Daya, M., de Andrade, M., de las Fuentes, L., de Vries, P., DeBaun, M., Deka, R., DeMeo, D., Devine, S., Dinh, H., Doddapaneni, H., Duan, Q., Dugan-Perez, S., Duggirala, R., Durda, J. P., Dutcher, S. K., Eaton, C., El Boueiz, A., Ellinor, P., Emery, L., Erzurum, S., Farber, C., Farek, J., Fingerlin, T., Flickinger, M., Fornage, M., Franceschini, N., Frazar, C., Fu, M., Fullerton, S. M., Fulton, L., Gabriel, S., Gan, W., Gao, S., Gao, Y., Gass, M., Geiger, H., Gelb, B., Geraci, M., Germer, S., Gerszten, R., Gu, C. C., Rao, D. C. & Sung, Y. J., May 2 2024, In: Blood. 143, 18, p. 1845-1855 11 p.

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Deciphering the impact of genomic variation on function

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Differential chromatin accessibility and transcriptional dynamics define breast cancer subtypes and their lineages

Iglesia, M. D., Jayasinghe, R. G., Chen, S., Terekhanova, N. V., Herndon, J. M., Storrs, E., Karpova, A., Zhou, D. C., Naser Al Deen, N., Shinkle, A. T., Lu, R. J. H., Caravan, W., Houston, A., Zhao, Y., Sato, K., Lal, P., Street, C., Martins Rodrigues, F., Southard-Smith, A. N. & Targino da Costa, A. L. N. & 40 others, Zhu, H., Mo, C. K., Crowson, L., Fulton, R. S., Wyczalkowski, M. A., Fronick, C. C., Fulton, L. A., Sun, H., Davies, S. R., Appelbaum, E. L., Chasnoff, S. E., Carmody, M., Brooks, C., Liu, R., Wendl, M. C., Oh, C., Bender, D., Cruchaga, C., Harari, O., Bredemeyer, A., Lavine, K., Bose, R., Margenthaler, J., Held, J. M., Achilefu, S., Ademuyiwa, F., Aft, R., Ma, C., Colditz, G. A., Ju, T., Oh, S. T., Fitzpatrick, J., Hwang, E. S., Shoghi, K. I., Chheda, M. G., Veis, D. J., Chen, F., Fields, R. C., Gillanders, W. E. & Ding, L., Nov 2024, In: Nature Cancer. 5, 11, p. 1713-1736 24 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Human whole-exome genotype data for Alzheimer’s disease

Leung, Y. Y., Naj, A. C., Chou, Y. F., Valladares, O., Schmidt, M., Hamilton-Nelson, K., Wheeler, N., Lin, H., Gangadharan, P., Qu, L., Clark, K., Kuzma, A. B., Lee, W. P., Cantwell, L., Nicaretta, H., van der Lee, S., English, A., Kalra, D., Muzny, D. & Skinner, E. & 121 others, Doddapeneni, H., Dinh, H., Hu, J., Santibanez, J., Jayaseelan, J., Worley, K., Gibbs, R. A., Lee, S., Dugan-Perez, S., Korchina, V., Nasser, W., Liu, X., Han, Y., Zhu, Y., Liu, Y., Khan, Z., Zhu, C., Sun, F. J., Jun, G. R., Chung, J., Farrell, J., Zhang, X., Banks, E., Gupta, N., Gabriel, S., Butkiewicz, M., Benchek, P., Smieszek, S., Song, Y., Vardarajan, B., Reitz, C., Reyes-Dumeyer, D., Tosto, G., De Jager, P. L., Barral, S., Ma, Y., Beiser, A., Liu, C. T., Dupuis, J., Lunetta, K., Cupples, L. A., Choi, S. H., Chen, Y., Mez, J., Vanderspek, A., Ikram, M. A., Ahmad, S., Faber, K., Foroud, T., Mlynarski, E., Schmidt, H., Schmidt, R., Kunkle, B., Rajabli, F., Beecham, G., Vance, J. M., Adams, L. D., Cuccaro, M., Mena, P., Booth, B. M., Renton, A., Goate, A., Marcora, E., Stine, A., Feolo, M., Launer, L. J., Koboldt, D. C., Wilson, R. K., van Duijn, C., Amin, N., Kapoor, M., Salerno, W., Bennett, D. A., Xia, L. C., Malamon, J., Mosley, T. H., Satizabal, C., Jan Bressler, B., Jian, X., Nato, A. Q., Horimoto, A. R., Wang, B., Psaty, B., Witten, D., Tsuang, D., Blue, E., Wijsman, E., Sohi, H., Nguyen, H., Bis, J. C., Rice, K., Brown, L., Dorschner, M., Saad, M., Navas, P., Nafikov, R., Thornton, T., Day, T., Haut, J., Sha, J., Zhang, N., Iqbal, T., Zhao, Y., Below, J. E., Larson, D. E., Appelbaum, E., Waligorski, J., Antonacci-Fulton, L., Fulton, R. S., Haines, J., Farrer, L., Seshadri, S., Brkanac, Z., Cruchaga, C., Pericak-Vance, M., Mayeux, R. P., Bush, W. S., Destefano, A., Martin, E., Schellenberg, G. D. & Wang, L. S., Dec 2024, In: Nature communications. 15, 1, 684.

Research output: Contribution to journal › Article › peer-review

Pangenome graph construction from genome alignments with Minigraph-Cactus

Human Pangenome Reference Consortium, Apr 2024, In: Nature Biotechnology. 42, 4, p. 663-673 11 p.

Research output: Contribution to journal › Article › peer-review

101 Scopus citations

2023

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Apr 27 2023, In: Nature. 616, 7958, p. 755-763 9 p.

Research output: Contribution to journal › Article › peer-review

52 Scopus citations

A draft human pangenome reference

Liao, W. W., Asri, M., Ebler, J., Doerr, D., Haukness, M., Hickey, G., Lu, S., Lucas, J. K., Monlong, J., Abel, H. J., Buonaiuto, S., Chang, X. H., Cheng, H., Chu, J., Colonna, V., Eizenga, J. M., Feng, X., Fischer, C., Fulton, R. S. & Garg, S. & 99 others, Groza, C., Guarracino, A., Harvey, W. T., Heumos, S., Howe, K., Jain, M., Lu, T. Y., Markello, C., Martin, F. J., Mitchell, M. W., Munson, K. M., Mwaniki, M. N., Novak, A. M., Olsen, H. E., Pesout, T., Porubsky, D., Prins, P., Sibbesen, J. A., Sirén, J., Tomlinson, C., Villani, F., Vollger, M. R., Antonacci-Fulton, L. L., Baid, G., Baker, C. A., Belyaeva, A., Billis, K., Carroll, A., Chang, P. C., Cody, S., Cook, D. E., Cook-Deegan, R. M., Cornejo, O. E., Diekhans, M., Ebert, P., Fairley, S., Fedrigo, O., Felsenfeld, A. L., Formenti, G., Frankish, A., Gao, Y., Garrison, N. A., Giron, C. G., Green, R. E., Haggerty, L., Hoekzema, K., Hourlier, T., Ji, H. P., Kenny, E. E., Koenig, B. A., Kolesnikov, A., Korbel, J. O., Kordosky, J., Koren, S., Lee, H. J., Lewis, A. P., Magalhães, H., Marco-Sola, S., Marijon, P., McCartney, A., McDaniel, J., Mountcastle, J., Nattestad, M., Nurk, S., Olson, N. D., Popejoy, A. B., Puiu, D., Rautiainen, M., Regier, A. A., Rhie, A., Sacco, S., Sanders, A. D., Schneider, V. A., Schultz, B. I., Shafin, K., Smith, M. W., Sofia, H. J., Abou Tayoun, A. N., Thibaud-Nissen, F., Tricomi, F. F., Wagner, J., Walenz, B., Wood, J. M. D., Zimin, A. V., Bourque, G., Chaisson, M. J. P., Flicek, P., Phillippy, A. M., Zook, J. M., Eichler, E. E., Haussler, D., Wang, T., Jarvis, E. D., Miga, K. H., Garrison, E., Marschall, T., Hall, I. M., Li, H. & Paten, B., May 11 2023, In: Nature. 617, 7960, p. 312-324 13 p.

Research output: Contribution to journal › Article › peer-review

443 Scopus citations

Clonal haematopoiesis and risk of chronic liver disease

NHLBI TOPMed Hematology Working Group, Apr 27 2023, In: Nature. 616, 7958, p. 747-754 8 p.

Research output: Contribution to journal › Article › peer-review

106 Scopus citations

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

NHLBI Trans-Omics in Precision Medicine (TOPMed) Consortium, Recto, K., Kachroo, P., Huan, T., Van Den Berg, D., Lee, G. Y., Bui, H., Lee, D. H., Gereige, J., Yao, C., Hwang, S. J., Joehanes, R., Weiss, S. T., Abe, N., Abecasis, G., Aguet, F., Albert, C., Almasy, L., Alonso, A. & Ament, S. & 181 others, Anderson, P., Anugu, P., Applebaum-Bowden, D., Ardlie, K., Arking, D., Arnett, D. K., Ashley-Koch, A., Aslibekyan, S., Assimes, T., Auer, P., Avramopoulos, D., Ayas, N., Balasubramanian, A., Barnard, J., Barnes, K., Barr, R. G., Barron-Casella, E., Barwick, L., Beaty, T., Beck, G., Becker, D., Becker, L., Beer, R., Beitelshees, A., Benjamin, E., Benos, T., Bezerra, M., Bielak, L., Bis, J., Blackwell, T., Blangero, J., Blue, N., Boerwinkle, E., Bowden, D. W., Bowler, R., Brody, J., Broeckel, U., Broome, J., Brown, D., Bunting, K., Burchard, E., Bustamante, C., Buth, E., Cade, B., Cardwell, J., Carey, V., Carrier, J., Carson, A. P., Carty, C., Casaburi, R., Casas Romero, J. P., Casella, J., Castaldi, P., Chaffin, M., Chang, C., Chang, Y. C., Chasman, D., Chavan, S., Chen, B. J., Chen, W. M., Ida Chen, Y. D., Cho, M., Choi, S. H., Chuang, L. M., Chung, M., Chung, R. H., Clish, C., Comhair, S., Conomos, M., Cornell, E., Correa, A., Crandall, C., Crapo, J., Cupples, L. A., Curran, J., Curtis, J., Custer, B., Damcott, C., Darbar, D., David, S., Davis, C., Daya, M., de Andrade, M., de las Fuentes, L., de Vries, P., DeBaun, M., Deka, R., DeMeo, D., Devine, S., Dinh, H., Doddapaneni, H., Duan, Q., Dugan-Perez, S., Duggirala, R., Durda, J. P., Dutcher, S. K., Eaton, C., Ekunwe, L., El Boueiz, A., Ellinor, P., Emery, L., Erzurum, S., Farber, C., Farek, J., Fingerlin, T., Flickinger, M., Fornage, M., Franceschini, N., Frazar, C., Fu, M., Fullerton, S. M., Fulton, L., Gabriel, S., Gan, W., Gao, S., Gao, Y., Gass, M., Geiger, H., Gelb, B., Geraci, M., Germer, S., Gerszten, R., Ghosh, A., Gibbs, R., Gignoux, C., Gladwin, M., Glahn, D., Gogarten, S., Gong, D. W., Goring, H., Graw, S., Gray, K. J., Grine, D., Gross, C., Gu, C. C., Guan, Y., Guo, X., Gupta, N., Haessler, J., Hall, M., Han, Y., Hanly, P., Harris, D., Hawley, N. L., He, J., Heavner, B., Heckbert, S., Hernandez, R., Herrington, D., Hersh, C., Hidalgo, B., Hixson, J., Hobbs, B., Hokanson, J., Hong, E., Hoth, K., Hsiung, C., Hu, J., Hung, Y. J., Huston, H., Hwu, C. M., Irvin, M. R., Jackson, R., Jain, D., Jaquish, C., Johnsen, J., Johnson, A., Johnson, C., Johnston, R., Jones, K., Kang, H. M., Kaplan, R., Kardia, S., Kelly, S., Kenny, E., Kessler, M., Khan, A., Khan, Z., Kim, W., Rao, D. C. & Sung, Y. J., Sep 2023, In: EBioMedicine. 95, 104758.

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Gaps and complex structurally variant loci in phased genome assemblies

Human Pangenome Reference Consortium, Apr 2023, In: Genome research. 33, 4, p. 496-510 15 p.

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Increased mutation and gene conversion within human segmental duplications

Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Fulton, R. S., Hall, I., Liao, W. W., Regier, A., Tomlinson, C. & Wang, T., May 11 2023, In: Nature. 617, 7960, p. 325-334 10 p.

Research output: Contribution to journal › Article › peer-review

44 Scopus citations

Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome

Human Pangenome Reference Consortium, Aug 28 2023, In: Cell Reports Methods. 3, 8, 100543.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group, Jan 2023, In: Nature Genetics. 55, 1, p. 154-164 11 p.

Research output: Contribution to journal › Article › peer-review

20 Scopus citations

Recombination between heterologous human acrocentric chromosomes

Human Pangenome Reference Consortium, Abel, H. J., Antonacci-Fulton, L. L., Fulton, R. S., Hall, I., Liao, W. W., Regier, A. & Wang, T., May 11 2023, In: Nature. 617, 7960, p. 335-343 9 p.

Research output: Contribution to journal › Article › peer-review

60 Scopus citations

2022

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & TOPMed Lipids Working Group, Dec 2022, In: Nature Methods. 19, 12, p. 1599-1611 13 p.

Research output: Contribution to journal › Article › peer-review

53 Scopus citations

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

TOPMed Anthropometry Working Group & NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Mar 2022, In: Nature Genetics. 54, 3, p. 263-273 11 p.

Research output: Contribution to journal › Article › peer-review

177 Scopus citations

Nine out of ten samples were mistakenly switched by The Orang-utan Genome Consortium

Banes, G. L., Fountain, E. D., Karklus, A., Fulton, R. S., Antonacci-Fulton, L. & Nelson, J. O., Dec 2022, In: Scientific data. 9, 1, 485.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes

AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group, Jan 6 2022, In: American journal of human genetics. 109, 1, p. 81-96 16 p.

Research output: Contribution to journal › Article › peer-review

23 Scopus citations

Semi-automated assembly of high-quality diploid human reference genomes

Human Pangenome Reference Consortium, Cody, S., Fulton, R. S., Fulton, L. L., Li, D., Lindsay, T., Regier, A., Stitziel, N. O., Wang, T. & Hall, I., Nov 17 2022, In: Nature. 611, 7936, p. 519-531 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

95 Scopus citations

Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer

Cui Zhou, D., Jayasinghe, R. G., Chen, S., Herndon, J. M., Iglesia, M. D., Navale, P., Wendl, M. C., Caravan, W., Sato, K., Storrs, E., Mo, C. K., Liu, J., Southard-Smith, A. N., Wu, Y., Naser Al Deen, N., Baer, J. M., Fulton, R. S., Wyczalkowski, M. A., Liu, R. & Fronick, C. C. & 46 others, Fulton, L. A., Shinkle, A., Thammavong, L., Zhu, H., Sun, H., Wang, L. B., Li, Y., Zuo, C., McMichael, J. F., Davies, S. R., Appelbaum, E. L., Robbins, K. J., Chasnoff, S. E., Yang, X., Reeb, A. N., Oh, C., Serasanambati, M., Lal, P., Varghese, R., Mashl, J. R., Ponce, J., Terekhanova, N. V., Yao, L., Wang, F., Chen, L., Schnaubelt, M., Lu, R. J. H., Schwarz, J. K., Puram, S. V., Kim, A. H., Song, S. K., Shoghi, K. I., Lau, K. S., Ju, T., Chen, K., Chatterjee, D., Hawkins, W. G., Zhang, H., Achilefu, S., Chheda, M. G., Oh, S. T., Gillanders, W. E., Chen, F., DeNardo, D. G., Fields, R. C. & Ding, L., Sep 2022, In: Nature Genetics. 54, 9, p. 1390-1405 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

130 Scopus citations

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals

Tahir, U. A., Katz, D. H., Avila-Pachecho, J., Bick, A. G., Pampana, A., Robbins, J. M., Yu, Z., Chen, Z. Z., Benson, M. D., Cruz, D. E., Ngo, D., Deng, S., Shi, X., Zheng, S., Eisman, A. S., Farrell, L., Hall, M. E., Correa, A., Tracy, R. P. & Durda, P. & 410 others, Taylor, K. D., Liu, Y., Johnson, W. C., Guo, X., Yao, J., Chen, Y. D. I., Manichaikul, A. W., Ruberg, F. L., Blaner, W. S., Jain, D., Bouchard, C., Sarzynski, M. A., Rich, S. S., Rotter, J. I., Wang, T. J., Wilson, J. G., Clish, C. B., Natarajan, P., Gerszten, R. E., Abe, N., Abecasis, G., Aguet, F., Albert, C., Almasy, L., Alonso, A., Ament, S., Anderson, P., Anugu, P., Applebaum-Bowden, D., Ardlie, K., Arking, D., Arnett, D. K., Ashley-Koch, A., Aslibekyan, S., Assimes, T., Auer, P., Avramopoulos, D., Ayas, N., Balasubramanian, A., Barnard, J., Barnes, K., Barr, R. G., Barron-Casella, E., Barwick, L., Beaty, T., Beck, G., Becker, D., Becker, L., Beer, R., Beitelshees, A., Benjamin, E., Benos, T., Bezerra, M., Bielak, L., Bis, J., Blackwell, T., Blangero, J., Blue, N., Boerwinkle, E., Bowden, D. W., Bowler, R., Brody, J., Broeckel, U., Broome, J., Brown, D., Bunting, K., Burchard, E., Bustamante, C., Buth, E., Cade, B., Cardwell, J., Carey, V., Carrier, J., Carson, A., Carty, C., Casaburi, R., Romero, J. P. C., Casella, J., Castaldi, P., Chaffin, M., Chang, C., Chang, Y. C., Chasman, D., Chavan, S., Chen, B. J., Chen, W. M., Cho, M., Choi, S. H., Chuang, L. M., Chung, M., Chung, R. H., Comhair, S., Conomos, M., Cornell, E., Crandall, C., Crapo, J., Cupples, L. A., Curran, J., Curtis, J., Custer, B., Damcott, C., Darbar, D., David, S., Davis, C., Daya, M., de Andrade, M., Fuentes, L. D. L., de Vries, P., DeBaun, M., Deka, R., DeMeo, D., Devine, S., Dinh, H., Doddapaneni, H., Duan, Q., Dugan-Perez, S., Duggirala, R., Dutcher, S. K., Eaton, C., Ekunwe, L., El Boueiz, A., Ellinor, P., Emery, L., Erzurum, S., Farber, C., Farek, J., Fingerlin, T., Flickinger, M., Fornage, M., Franceschini, N., Frazar, C., Fu, M., Fullerton, S. M., Fulton, L., Gabriel, S., Gan, W., Gao, S., Gao, Y., Gass, M., Geiger, H., Gelb, B., Geraci, M., Germer, S., Ghosh, A., Gibbs, R., Gignoux, C., Gladwin, M., Glahn, D., Gogarten, S., Gong, D. W., Goring, H., Graw, S., Gray, K. J., Grine, D., Gross, C., Gu, C. C., Guan, Y., Gupta, N., Haessler, J., Han, Y., Hanly, P., Harris, D., Hawley, N. L., He, J., Heavner, B., Heckbert, S., Hernandez, R., Herrington, D., Hersh, C., Hidalgo, B., Hixson, J., Hobbs, B., Hokanson, J., Hong, E., Hoth, K., Hsiung, C., Hu, J., Hung, Y. J., Huston, H., Hwu, C. M., Irvin, M. R., Jackson, R., Jaquish, C., Johnsen, J., Johnson, A., Johnston, R., Jones, K., Kang, H. M., Kaplan, R., Kardia, S., Kelly, S., Kenny, E., Kessler, M., Khan, A., Khan, Z., Kim, W., Kimoff, J., Kinney, G., Konkle, B., Kooperberg, C., Kramer, H., Lange, C., Lange, E., Lange, L., Laurie, C., Laurie, C., LeBoff, M., Lee, J., Lee, S., Lee, W. J., LeFaive, J., Levine, D., Levy, D., Lewis, J., Li, X., Li, Y., Lin, H., Lin, H., Lin, X., Liu, S., Liu, Y., Loos, R. J. F., Lubitz, S., Lunetta, K., Luo, J., Magalang, U., Mahaney, M., Make, B., Manning, A., Manson, J. A., Martin, L., Marton, M., Mathai, S., Mathias, R., May, S., McArdle, P., McDonald, M. L., McFarland, S., McGarvey, S., McGoldrick, D., McHugh, C., McNeil, B., Mei, H., Meigs, J., Menon, V., Mestroni, L., Metcalf, G., Meyers, D. A., Mignot, E., Mikulla, J., Min, N., Minear, M., Minster, R. L., Mitchell, B. D., Moll, M., Momin, Z., Montasser, M. E., Montgomery, C., Muzny, D., Mychaleckyj, J. C., Nadkarni, G., Naik, R., Naseri, T., Nekhai, S., Nelson, S. C., Neltner, B., Nessner, C., Nickerson, D., Nkechinyere, O., North, K., O’Connell, J., O’Connor, T., Ochs-Balcom, H., Okwuonu, G., Pack, A., Paik, D. T., Palmer, N., Pankow, J., Papanicolaou, G., Parker, C., Peloso, G., Peralta, J. M., Perez, M., Perry, J., Peters, U., Peyser, P., Phillips, L. S., Pleiness, J., Pollin, T., Post, W., Becker, J. P., Boorgula, M. P., Preuss, M., Psaty, B., Qasba, P., Qiao, D., Qin, Z., Rafaels, N., Raffield, L., Rajendran, M., Ramachandran, V. S., Rao, D. C., Rasmussen-Torvik, L., Ratan, A., Redline, S., Reed, R., Reeves, C., Regan, E., Reiner, A., Reupena, M. S., Rice, K., Robillard, R., Robine, N., Dan Roden, R., Roselli, C., Ruczinski, I., Runnels, A., Russell, P., Ruuska, S., Sabino, E. C., Saleheen, D., Salimi, S., Salvi, S., Salzberg, S., Sandow, K., Sankaran, V. G., Santibanez, J., Schwander, K., Schwartz, D., Sciurba, F., Seidman, C., Seidman, J., SÃ©riÃ¨s, F., Sheehan, V., Sherman, S. L., Shetty, A., Shetty, A., Sheu, W. H. H., Shoemaker, M. B., Silver, B., Silverman, E., Skomro, R., Smith, A. V., Smith, J., Smith, J., Smith, N., Smith, T., Smoller, S., Snively, B., Snyder, M., Sofer, T., Sotoodehnia, N., Stilp, A. M., Storm, G., Streeten, E., Su, J. L., Sung, Y. J., Sylvia, J., Szpiro, A., Taliun, D., Tang, H., Taub, M., Taylor, M., Taylor, S., Telen, M., Thornton, T. A., Threlkeld, M., Tinker, L., Tirschwell, D., Tishkoff, S., Tiwari, H., Tong, C., Tsai, M., Vaidya, D., Van Den Berg, D., VandeHaar, P., Vrieze, S., Walker, T., Wallace, R., Walts, A., Wang, F. F., Wang, H., Wang, J., Watson, K., Watt, J., Weeks, D. E., Weinstock, J., Weir, B., Weiss, S. T., Weng, L. C., Wessel, J., Willer, C., Williams, K., Williams, L. K., Wilson, C., Winterkorn, L., Wong, Q., Wu, J., Xu, H., Yanek, L., Yang, I., Yu, K., Zekavat, S. M., Zhang, Y., Zhao, S. X., Zhao, W., Zhu, X., Ziv, E., Zody, M. & Zoellner, S., Dec 2022, In: Nature communications. 13, 1, 4923.

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2022, In: Nature communications. 13, 1, 5995.

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

2021

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Oct 2021, In: Nature Genetics. 53, 10, p. 1504-1516 13 p.

Research output: Contribution to journal › Article › peer-review

89 Scopus citations

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & FinnGen, Dec 1 2021, In: Nature communications. 12, 1, 2182.

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium

NHLBI SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS), Dec 2021, In: Genome medicine. 13, 1, 66.

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

Genome sequencing unveils a regulatory landscape of platelet reactivity

NHLBI Trans-Omics for Precision (TOPMed) Consortium, Dec 1 2021, In: Nature communications. 12, 1, 3626.

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Genomic Profiling of Lung Adenocarcinoma in Never-Smokers

Devarakonda, S., Li, Y., Martins Rodrigues, F., Sankararaman, S., Kadara, H., Goparaju, C., Lanc, I., Pepin, K., Waqar, S. N., Morgensztern, D., Ward, J., Masood, A., Fulton, R., Fulton, L., Gillette, M. A., Satpathy, S., Carr, S. A., Wistuba, I., Pass, H. & Wilson, R. K. & 2 others, Ding, L. & Govindan, R., Nov 20 2021, In: Journal of Clinical Oncology. 39, 33, p. 3747-3758 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

70 Scopus citations

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Feb 11 2021, In: Nature. 590, 7845, p. 290-299 10 p.

Research output: Contribution to journal › Article › peer-review

1078 Scopus citations

Variant-specific inflation factors for assessing population stratification at the phenotypic variance level

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 1 2021, In: Nature communications. 12, 1, 3506.

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

TOPMed Sleep Working Group & NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2021, In: Genome medicine. 13, 1, 136.

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

2020

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns

PCAWG Tumor Subtypes and Clinical Translation Working Group, PCAWG Consortium, Jiao, W., Atwal, G., Polak, P., Karlic, R., Cuppen, E., Al-Shahrour, F., Atwal, G., Bailey, P. J., Biankin, A. V., Boutros, P. C., Campbell, P. J., Chang, D. K., Cooke, S. L., Deshpande, V., Faltas, B. M., Faquin, W. C., Garraway, L. & Getz, G. & 182 others, Grimmond, S. M., Haider, S., Hoadley, K. A., Jiao, W., Kaiser, V. B., Karlic, R., Kato, M., Kübler, K., Lazar, A. J., Li, C. H., Louis, D. N., Margolin, A., Martin, S., Nahal-Bose, H. K., Nielsen, G. P., Nik-Zainal, S., Omberg, L., P’ng, C., Perry, M. D., Polak, P., Rheinbay, E., Rubin, M. A., Semple, C. A., Sgroi, D. C., Shibata, T., Siebert, R., Smith, J., Stein, L. D., Stobbe, M. D., Sun, R. X., Thai, K., Wright, D. W., Wu, C. L., Yuan, K., Zhang, J., Danyi, A., de Ridder, J., van Herpen, C., Lolkema, M. P., Steeghs, N., Getz, G., Morris, Q. D., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Nature communications. 11, 1, 728.

Research output: Contribution to journal › Article › peer-review

142 Scopus citations

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

PCAWG Consortium, PCAWG Drivers and Functional Interpretation Working Group, PCAWG-Structural Variation Working Group, Rheinbay, E., Nielsen, M. M., Abascal, F., Wala, J. A., Shapira, O., Tiao, G., Hornshøj, H., Hess, J. M., Juul, R. I., Lin, Z., Feuerbach, L., Sabarinathan, R., Madsen, T., Kim, J., Mularoni, L., Shuai, S. & Lanzós, A. & 183 others, Herrmann, C., Maruvka, Y. E., Shen, C., Amin, S. B., Bandopadhayay, P., Bertl, J., Boroevich, K. A., Busanovich, J., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., Craft, D., Dhingra, P., Diamanti, K., Fonseca, N. A., Gonzalez-Perez, A., Guo, Q., Hamilton, M. P., Haradhvala, N. J., Hong, C., Isaev, K., Johnson, T. A., Juul, M., Kahles, A., Kahraman, A., Kim, Y., Komorowski, J., Kumar, K., Kumar, S., Lee, D., Lehmann, K. V., Li, Y., Liu, E. M., Lochovsky, L., Park, K., Pich, O., Roberts, N. D., Saksena, G., Schumacher, S. E., Sidiropoulos, N., Sieverling, L., Sinnott-Armstrong, N., Stewart, C., Tamborero, D., Tubio, J. M. C., Umer, H. M., Uusküla-Reimand, L., Wadelius, C., Wadi, L., Yao, X., Zhang, C. Z., Zhang, J., Haber, J. E., Hobolth, A., Imielinski, M., Kellis, M., Lawrence, M. S., von Mering, C., Nakagawa, H., Raphael, B. J., Rubin, M. A., Sander, C., Stein, L. D., Stuart, J. M., Tsunoda, T., Wheeler, D. A., Johnson, R., Reimand, J., Gerstein, M., Khurana, E., Campbell, P. J., López-Bigas, N., Weischenfeldt, J., Beroukhim, R., Martincorena, I., Pedersen, J. S., Getz, G., Bader, G. D., Barenboim, J., Brunak, S., Chen, K., Choi, J. K., Deu-Pons, J., Fink, J. L., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Gut, I. G., Haan, D., Harmanci, A. O., Helmy, M., Hodzic, E., Izarzugaza, J. M. G., Kim, J. K., Korbel, J. O., Larsson, E., Li, S., Li, X., Lou, S., Marchal, K., Martinez-Fundichely, A., McGillivray, P. D., Meyerson, W., Muiños, F., Paczkowska, M., Park, K., Pons, T., Pulido-Tamayo, S., Reyes-Salazar, I., Reyna, M. A., Rubio-Perez, C., Sahinalp, S. C., Salichos, L., Shackleton, M., Shrestha, R., Valencia, A., Vazquez, M., Verbeke, L. P. C., Wang, J., Warrell, J., Waszak, S. M., Wu, G., Yu, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., Chan, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Frenkel-Morgenstern, M., Gordenin, D. A., Hutter, B., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Lee, E. A., Lee, J. J. K., Lynch, A. G., Macintyre, G., Markowetz, F., Meyerson, M., Miyano, S., Navarro, F. C. P., Ossowski, S., Park, P. J., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, S. A., Rodriguez-Martin, B., Scully, R., Torrents, D., Villasante, I., Waddell, N., Yang, L., Yoon, S. S., Zamora, J., Aaltonen, L. A., Abeshouse, A., Aburatani, H., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Feb 6 2020, In: Nature. 578, 7793, p. 102-111 10 p.

Research output: Contribution to journal › Article › peer-review

412 Scopus citations

Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis

PCAWG Drivers and Functional Interpretation Group, PCAWG Consortium, Carlevaro-Fita, J., Lanzós, A., Feuerbach, L., Hong, C., Mas-Ponte, D., Pedersen, J. S., Johnson, R., Abascal, F., Amin, S. B., Bader, G. D., Barenboim, J., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Chakravarty, D. & Chan, C. W. Y. & 182 others, Chen, K., Choi, J. K., Deu-Pons, J., Dhingra, P., Diamanti, K., Fink, J. L., Fonseca, N. A., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Gerstein, M., Getz, G., Gonzalez-Perez, A., Guo, Q., Gut, I. G., Haan, D., Hamilton, M. P., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hess, J. M., Hobolth, A., Hodzic, E., Hornshøj, H., Isaev, K., Izarzugaza, J. M. G., Johnson, T. A., Juul, M., Juul, R. I., Kahles, A., Kahraman, A., Kellis, M., Khurana, E., Kim, J., Kim, J. K., Kim, Y., Komorowski, J., Korbel, J. O., Kumar, S., Larsson, E., Lawrence, M. S., Lee, D., Lehmann, K. V., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Marchal, K., Martincorena, I., Martinez-Fundichely, A., Maruvka, Y. E., McGillivray, P. D., Meyerson, W., Muiños, F., Mularoni, L., Nakagawa, H., Nielsen, M. M., Paczkowska, M., Park, K., Park, K., Pich, O., Pons, T., Pulido-Tamayo, S., Raphael, B. J., Reimand, J., Reyes-Salazar, I., Reyna, M. A., Rheinbay, E., Rubin, M. A., Rubio-Perez, C., Sabarinathan, R., Sahinalp, S. C., Saksena, G., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shapira, O., Shen, C., Shrestha, R., Shuai, S., Sidiropoulos, N., Sieverling, L., Sinnott-Armstrong, N., Stein, L. D., Stuart, J. M., Tamborero, D., Tiao, G., Tsunoda, T., Umer, H. M., Uusküla-Reimand, L., Valencia, A., Vazquez, M., Verbeke, L. P. C., Wadelius, C., Wadi, L., Wang, J., Warrell, J., Waszak, S. M., Weischenfeldt, J., Wheeler, D. A., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., von Mering, C., Aaltonen, L. A., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Communications Biology. 3, 1, 56.

Research output: Contribution to journal › Article › peer-review

155 Scopus citations

Combined burden and functional impact tests for cancer driver discovery using DriverPower

PCAWG Drivers and Functional Interpretation Working Group, PCAWG Consortium, Shuai, S., Abascal, F., Amin, S. B., Bader, G. D., Bandopadhayay, P., Barenboim, J., Beroukhim, R., Bertl, J., Boroevich, K. A., Brunak, S., Campbell, P. J., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., Chen, K., Choi, J. K., Deu-Pons, J. & Dhingra, P. & 182 others, Diamanti, K., Feuerbach, L., Fink, J. L., Fonseca, N. A., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Gerstein, M., Getz, G., Guo, Q., Gut, I. G., Haan, D., Hamilton, M. P., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hess, J. M., Hobolth, A., Hodzic, E., Hong, C., Hornshøj, H., Isaev, K., Izarzugaza, J. M. G., Johnson, R., Johnson, T. A., Juul, M., Juul, R. I., Kahles, A., Kahraman, A., Kellis, M., Khurana, E., Kim, J., Kim, J. K., Kim, Y., Komorowski, J., Korbel, J. O., Kumar, S., Lanzós, A., Larsson, E., Lawrence, M. S., Lee, D., Lehmann, K. V., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Marchal, K., Martincorena, I., Martinez-Fundichely, A., Maruvka, Y. E., McGillivray, P. D., Meyerson, W., Muiños, F., Mularoni, L., Nakagawa, H., Nielsen, M. M., Paczkowska, M., Park, K., Park, K., Pedersen, J. S., Pons, T., Pulido-Tamayo, S., Raphael, B. J., Reimand, J., Reyes-Salazar, I., Reyna, M. A., Rheinbay, E., Rubin, M. A., Rubio-Perez, C., Sahinalp, S. C., Saksena, G., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shapira, O., Shen, C., Shrestha, R., Shuai, S., Sidiropoulos, N., Sieverling, L., Sinnott-Armstrong, N., Stein, L. D., Stuart, J. M., Tamborero, D., Tiao, G., Tsunoda, T., Umer, H. M., Uusküla-Reimand, L., Valencia, A., Vazquez, M., Verbeke, L. P. C., Wadelius, C., Wadi, L., Wang, J., Warrell, J., Waszak, S. M., Weischenfeldt, J., Wheeler, D. A., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., von Mering, C., Gallinger, S., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Nature communications. 11, 1, 734.

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

PCAWG-Structural Variation Working Group, PCAWG Consortium, Cortés-Ciriano, I., Lee, J. J. K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C. Z., Pellman, D. S., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B. & Burns, K. H. & 182 others, Campbell, P. J., Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Park, P. J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Mar 1 2020, In: Nature Genetics. 52, 3, p. 331-341 11 p.

Research output: Contribution to journal › Article › peer-review

456 Scopus citations

Comprehensive molecular characterization of mitochondrial genomes in human cancers

PCAWG Consortium, Yuan, Y., Ju, Y. S., Kim, Y., Li, J., Wang, Y., Yoon, C. J., Yang, Y., Martincorena, I., Creighton, C. J., Weinstein, J. N., Xu, Y., Han, L., Kim, H. L., Nakagawa, H., Park, K., Campbell, P. J., Liang, H., Aaltonen, L. A. & Abascal, F. & 181 others, Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brors, B., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Buchhalter, I., Buchholz, C., Bullman, S., Burke, H., Burkhardt, B., Burns, K. H., Busanovich, J., Bustamante, C. D., Butler, A. P., Butte, A. J., Byrne, N. J., Børresen-Dale, A. L., Caesar-Johnson, S. J., Cafferkey, A., Cahill, D., Calabrese, C., Caldas, C., Calvo, F., Camacho, N., Campbell, P. J., Campo, E., Cantù, C., Cao, S., Carey, T. E., Carlevaro-Fita, J., Carlsen, R., Cataldo, I., Cazzola, M., Cebon, J., Cerfolio, R., Chadwick, D. E., Chakravarty, D., Chalmers, D., Chan, C. W. Y., Chan, K., Chan-Seng-Yue, M., Chandan, V. S., Chang, D. K., Chanock, S. J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Mar 1 2020, In: Nature Genetics. 52, 3, p. 342-352 11 p.

Research output: Contribution to journal › Article › peer-review

283 Scopus citations

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

PCAWG-Structural Variation Working Group, PCAWG Consortium, Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H. & Campbell, P. J. & 182 others, Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Lee, J. J. K., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Meyerson, M., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Park, P. J., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Zhang, C. Z., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Mar 1 2020, In: Nature Genetics. 52, 3, p. 294-305 12 p.

Research output: Contribution to journal › Article › peer-review

182 Scopus citations

Divergent mutational processes distinguish hypoxic and normoxic tumours

PCAWG Consortium, Dec 1 2020, In: Nature communications. 11, 1, 737.

Research output: Contribution to journal › Article › peer-review

104 Scopus citations

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & TOPMed Lipids Working Group, Sep 1 2020, In: Nature Genetics. 52, 9, p. 969-983 15 p.

Research output: Contribution to journal › Article › peer-review

135 Scopus citations

Genomic basis for RNA alterations in cancer

PCAWG Transcriptome Core Group, PCAWG Transcriptome Working Group, PCAWG Consortium, Calabrese, C., Davidson, N. R., Demircioğlu, D., Fonseca, N. A., He, Y., Kahles, A., Lehmann, K. V., Liu, F., Shiraishi, Y., Soulette, C. M., Urban, L., Greger, L., Li, S., Liu, D., Perry, M. D., Xiang, Q. & Zhang, F. & 183 others, Zhang, J., Bailey, P., Erkek, S., Hoadley, K. A., Hou, Y., Huska, M. R., Kilpinen, H., Korbel, J. O., Marin, M. G., Markowski, J., Nandi, T., Pan-Hammarström, Q., Pedamallu, C. S., Siebert, R., Stark, S. G., Su, H., Tan, P., Waszak, S. M., Yung, C., Zhu, S., Awadalla, P., Creighton, C. J., Meyerson, M., Ouellette, B. F. F., Wu, K., Yang, H., Brazma, A., Brooks, A. N., Göke, J., Rätsch, G., Schwarz, R. F., Stegle, O., Zhang, Z., Amin, S. B., Chateigner, A., Cortés-Ciriano, I., Craft, B., Frenkel-Morgenstern, M., Goldman, M., Khurana, E., Lamaze, F. C., Li, C., Li, X., Li, X., Liu, X., Nielsen, M. M., Ojesina, A. I., Park, P. J., Pedersen, J. S., Teh, B. T., Wang, J., Xiong, H., Yakneen, S., Ye, C., Zhang, X., Zheng, L., Zhu, J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. L., Boyault, S., Boyce, R., Boyd, J., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Feb 6 2020, In: Nature. 578, 7793, p. 129-136 8 p.

Research output: Contribution to journal › Article › peer-review

308 Scopus citations

Genomic footprints of activated telomere maintenance mechanisms in cancer

PCAWG-Structural Variation Working Group, PCAWG Consortium, Sieverling, L., Hong, C., Koser, S. D., Ginsbach, P., Kleinheinz, K., Hutter, B., Braun, D. M., Cortés-Ciriano, I., Xi, R., Kabbe, R., Park, P. J., Eils, R., Schlesner, M., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R. & Boutros, P. C. & 182 others, Bowtell, D. D. L., Brors, B., Burns, K. H., Campbell, P. J., Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Lee, J. J. K., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Meyerson, M., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Zhang, C. Z., Brors, B., Rippe, K., Jones, D. T. W., Feuerbach, L., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Dec 1 2020, In: Nature communications. 11, 1, 733.

Research output: Contribution to journal › Article › peer-review

90 Scopus citations

High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations

PCAWG Transcriptome Working Group, PCAWG-Structural Variation Working Group, PCAWG Consortium, Zhang, Y., Chen, F., Fonseca, N. A., He, Y., Fujita, M., Nakagawa, H., Zhang, Z., Brazma, A., Amin, S. B., Awadalla, P., Bailey, P. J., Brazma, A., Brooks, A. N., Calabrese, C., Chateigner, A., Cortés-Ciriano, I. & Craft, B. & 183 others, Craft, D., Creighton, C. J., Davidson, N. R., Demircioğlu, D., Erkek, S., Fonseca, N. A., Frenkel-Morgenstern, M., Goldman, M. J., Greger, L., Göke, J., He, Y., Hoadley, K. A., Hou, Y., Huska, M. R., Kahles, A., Khurana, E., Kilpinen, H., Korbel, J. O., Lamaze, F. C., Lehmann, K. V., Li, C., Li, S., Li, X., Li, X., Liu, D., Liu, F., Liu, X., Marin, M. G., Markowski, J., Meyerson, M., Nandi, T., Nielsen, M. M., Ojesina, A. I., Ouellette, B. F. F., Pan-Hammarström, Q., Park, P. J., Pedamallu, C. S., Pedersen, J. S., Perry, M. D., Rätsch, G., Schwarz, R. F., Shiraishi, Y., Siebert, R., Soulette, C. M., Stark, S. G., Stegle, O., Su, H., Tan, P., Teh, B. T., Urban, L., Wang, J., Waszak, S. M., Wu, K., Xiang, Q., Xiong, H., Yakneen, S., Yang, H., Ye, C., Yung, C. K., Zhang, F., Zhang, J., Zhang, X., Zhang, Z., Zheng, L., Zhu, J., Zhu, S., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., Campbell, P. J., Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Lee, J. J. K., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S. S., Zamora, J., Zhang, C. Z., Creighton, C. J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Muyas, F. & Werner, J., Dec 1 2020, In: Nature communications. 11, 1, 736.

Research output: Contribution to journal › Article › peer-review

59 Scopus citations

Inferring structural variant cancer cell fraction

PCAWG Evolution and Heterogeneity Working Group, PCAWG Consortium, Cmero, M., Yuan, K., Ong, C. S., Schröder, J., Adams, D. J., Anur, P., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Campbell, P. J., Cao, S., Christie, E. L., Cun, Y., Dawson, K. J., Demeulemeester, J., Dentro, S. C., Deshwar, A. G. & Donmez, N. & 182 others, Drews, R. M., Eils, R., Fan, Y., Fittall, M. W., Garsed, D. W., Gerstung, M., Getz, G., Gonzalez, S., Ha, G., Haase, K., Imielinski, M., Jerman, L., Ji, Y., Jolly, C., Kleinheinz, K., Lee, J., Lee-Six, H., Leshchiner, I., Livitz, D., Malikic, S., Martincorena, I., Mitchell, T. J., Morris, Q. D., Mustonen, V., Oesper, L., Peifer, M., Peto, M., Raphael, B. J., Rosebrock, D., Rubanova, Y., Sahinalp, S. C., Salcedo, A., Schlesner, M., Schumacher, S. E., Sengupta, S., Shi, R., Shin, S. J., Spellman, P. T., Spiro, O., Stein, L. D., Tarabichi, M., Van Loo, P., Vembu, S., Vázquez-García, I., Wang, W., Wedge, D. C., Wheeler, D. A., Wintersinger, J. A., Yang, T. P., Yao, X., Yu, K., Zhu, H., Corcoran, N. M., Papenfuss, T., Hovens, C. M., Markowetz, F., Macintyre, G., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Boyault, S., Boyce, R., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Nature communications. 11, 1, 730.

Research output: Contribution to journal › Article › peer-review

36 Scopus citations

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

NHLBI Trans-Omics for Precision Medicine Consortium, Oct 29 2020, In: Nature. 586, 7831, p. 763-768 6 p.

Research output: Contribution to journal › Article › peer-review

468 Scopus citations

Integrative pathway enrichment analysis of multivariate omics data

PCAWG Drivers and Functional Interpretation Working Group & PCAWG Consortium, Dec 1 2020, In: Nature communications. 11, 1, 735.

Research output: Contribution to journal › Article › peer-review

138 Scopus citations

Mapping and characterization of structural variation in 17,795 human genomes

NHGRI Centers for Common Disease Genomics, Jul 2 2020, In: Nature. 583, 7814, p. 83-89 7 p.

Research output: Contribution to journal › Article › peer-review

179 Scopus citations

Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Feb 6 2020, In: Nature. 578, 7793, p. 82-93 12 p.

Research output: Contribution to journal › Article › peer-review

1986 Scopus citations

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

PCAWG-Structural Variation Working Group, PCAWG Consortium, Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., Detering, H., Li, Y., Rodriguez-Castro, J., Dueso-Barroso, A., Bruzos, A. L., Dentro, S. C., Blanco, M. G. & Contino, G. & 182 others, Ardeljan, D., Tojo, M., Roberts, N. D., Zumalave, S., Edwards, P. A., Weischenfeldt, J., Puiggròs, M., Chong, Z., Chen, K., Lee, E. A., Wala, J. A., Raine, K. M., Butler, A., Waszak, S. M., Navarro, F. C. P., Schumacher, S. E., Monlong, J., Maura, F., Bolli, N., Bourque, G., Gerstein, M., Park, P. J., Wedge, D. C., Beroukhim, R., Torrents, D., Korbel, J. O., Martincorena, I., Fitzgerald, R. C., Van Loo, P., Kazazian, H. H., Burns, K. H., Campbell, P. J., Tubio, J. M. C., Akdemir, K. C., Boutros, P. C., Bowtell, D. D. L., Brors, B., Chan, K., Cortés-Ciriano, I., Dunford, A. J., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Kazanov, M. D., Klimczak, L. J., Koh, Y., Kumar, K., Lee, J. J. K., Lynch, A. G., Macintyre, G., Markowetz, F., Martinez-Fundichely, A., Meyerson, M., Miyano, S., Nakagawa, H., Ossowski, S., Pearson, J. V., Rippe, K., Roberts, S. A., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Villasante, I., Waddell, N., Yang, L., Yao, X., Yoon, S. S., Zhang, C. Z., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Mar 1 2020, In: Nature Genetics. 52, 3, p. 306-319 14 p.

Research output: Contribution to journal › Article › peer-review

291 Scopus citations

Pathway and network analysis of more than 2500 whole cancer genomes

PCAWG Drivers and Functional Interpretation Working Group, PCAWG Consortium, Reyna, M. A., Haan, D., Paczkowska, M., Verbeke, L. P. C., Vazquez, M., Kahraman, A., Pulido-Tamayo, S., Barenboim, J., Wadi, L., Dhingra, P., Shrestha, R., Getz, G., Lawrence, M. S., Pedersen, J. S., Rubin, M. A., Wheeler, D. A., Brunak, S. & Izarzugaza, J. M. G. & 182 others, Khurana, E., Marchal, K., von Mering, C., Sahinalp, S. C., Valencia, A., Abascal, F., Amin, S. B., Bader, G. D., Bandopadhayay, P., Beroukhim, R., Bertl, J., Boroevich, K. A., Busanovich, J., Campbell, P. J., Carlevaro-Fita, J., Chakravarty, D., Chan, C. W. Y., Chen, K., Choi, J. K., Deu-Pons, J., Diamanti, K., Feuerbach, L., Fink, J. L., Fonseca, N. A., Frigola, J., Gambacorti-Passerini, C., Garsed, D. W., Gerstein, M., Guo, Q., Gut, I. G., Hamilton, M. P., Haradhvala, N. J., Harmanci, A. O., Helmy, M., Herrmann, C., Hess, J. M., Hobolth, A., Hodzic, E., Hong, C., Hornshøj, H., Isaev, K., Johnson, R., Johnson, T. A., Juul, M., Juul, R. I., Kahles, A., Kellis, M., Kim, J., Kim, J. K., Kim, Y., Komorowski, J., Korbel, J. O., Kumar, S., Lanzós, A., Larsson, E., Lee, D., Lehmann, K. V., Li, S., Li, X., Lin, Z., Liu, E. M., Lochovsky, L., Lou, S., Madsen, T., Martincorena, I., Martinez-Fundichely, A., Maruvka, Y. E., McGillivray, P. D., Meyerson, W., Muiños, F., Mularoni, L., Nakagawa, H., Nielsen, M. M., Park, K., Park, K., Pons, T., Reyes-Salazar, I., Rheinbay, E., Rubio-Perez, C., Saksena, G., Salichos, L., Sander, C., Schumacher, S. E., Shackleton, M., Shapira, O., Shen, C., Shuai, S., Sidiropoulos, N., Sieverling, L., Sinnott-Armstrong, N., Stein, L. D., Tamborero, D., Tiao, G., Tsunoda, T., Umer, H. M., Uusküla-Reimand, L., Wadelius, C., Wang, J., Warrell, J., Waszak, S. M., Weischenfeldt, J., Wu, G., Yu, J., Zhang, J., Zhang, X., Zhang, Y., Zhao, Z., Zou, L., Reimand, J., Stuart, J. M., Raphael, B. J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S. M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S. I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Ding, L., Fulton, L. A., Fulton, R. S., Govindan, R., Jayasinghe, R., Ley, T., Miller, C. A., Mutch, D. & Wendl, M. C., Dec 1 2020, In: Nature communications. 11, 1, 729.

Research output: Contribution to journal › Article › peer-review

78 Scopus citations

Lucinda Antonacci-Fulton

Research output

Search results