Personal profile

Research interests

My research focus is on the discovery and characterization of genetic etiological factors involved in neurodevelopmental disorders (NDDs). Most of my work has applied genetic and functional approaches to understand autism with a focus on de novo and rare inherited variants, the potential underpinnings of the sex bias, birth order effects, and clustering of disease mutations in the primary protein structure. While there has been considerable progress in our understanding of the genetics of NDDs through the use of exome and array technologies there still remains an appreciable gap in understanding of their genetic architecture. Therefore, one major area of recent focus is variation in the noncoding genome. Main areas of work in the lab include assessment of whole-exome sequencing and whole-genome sequencing data in families with neurodevelopmental disorders, variant prioritization using functional genomic data, massively parallel reporter assays, and other functional experiments assessing consequences of variation.

Mentoring

Recently, we defined Precision Genomics as “determining all possible relevant genomic variation within an individual to the precise nucleotide.” My lab focuses on scientific aspects necessary for the future of Precision Genomics. Two of these include interpretation of noncoding variation and variants missed due to genomic technology. 

Available to Mentor:

  • Undergraduate Students
  • Post-Baccalaureate Students
  • PhD/MSTP Students
  • Postdocs
  • Residents and Fellows

Fingerprint

Dive into the research topics where Tychele Turner is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
  • 1 Similar Profiles

Collaborations and top research areas from the last five years

Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
  • Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer

    Ng, J. K., Chen, Y., Akinwe, T. M., Heins, H. B., Mehinovic, E., Chang, Y., Gutmann, D. H., Gurnett, C. A., Payne, Z. L., Manuel, J. G., Karchin, R. & Turner, T. N., Apr 9 2025, In: Cell Genomics. 5, 4, 100807.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

    Zerafati-Jahromi, G., Oxman, E., Hoang, H., Charng, W. L., Kotla, T., Yuan, W., Ishibashi, K., Sebaoui, S., Luedtke, K., Winrow, B., Ganetzky, R. D., Ruiz, A., Manso-Basúz, C., Spataro, N., Kannu, P., Athey, T., Peroutka, C., Barnes, C., Sidlow, R. & Anadiotis, G. & 34 others, Magnussen, K., Valenzuela, I., Moles-Fernandez, A., Berger, S., Grant, C. L., Vilain, E., Arnadottir, G. A., Sulem, P., Sulem, T. S., Stefansson, K., Massey, S., Ginn, N., Poduri, A., D'Gama, A. M., Valentine, R., Trowbridge, S. K., Murali, C. N., Franciskovich, R., Tran, Y., Webb, B. D., Keppler-Noreuil, K. M., Hall, A. L., McGivern, B., Monaghan, K. G., Guillen Sacoto, M. J., Baldridge, D., Silverman, G., Dahiya, S., Turner, T., Schedl, T., Corbin, J. G., Pak, S., Zohn, I. E. & Gurnett, C., Mar 6 2025, In: American journal of human genetics. 112, 3, p. 537-553 17 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods

    The Critical Assessment of Genome Interpretation Consortium, Jain, S., Bakolitsa, C., Brenner, S. E., Radivojac, P., Moult, J., Repo, S., Hoskins, R. A., Andreoletti, G., Barsky, D., Chellapan, A., Chu, H., Dabbiru, N., Kollipara, N. K., Ly, M., Neumann, A. J., Pal, L. R., Odell, E., Pandey, G. & Peters-Petrulewicz, R. C. & 181 others, Srinivasan, R., Yee, S. F., Yeleswarapu, S. J., Zuhl, M., Adebali, O., Patra, A., Beer, M. A., Hosur, R., Peng, J., Bernard, B. M., Berry, M., Dong, S., Boyle, A. P., Adhikari, A., Chen, J., Hu, Z., Wang, R., Wang, Y., Miller, M., Wang, Y., Bromberg, Y., Turina, P., Capriotti, E., Han, J. J., Ozturk, K., Carter, H., Babbi, G., Bovo, S., Di Lena, P., Martelli, P. L., Savojardo, C., Casadio, R., Cline, M. S., De Baets, G., Bonache, S., Díez, O., Gutiérrez-Enríquez, S., Fernández, A., Montalban, G., Ootes, L., Özkan, S., Padilla, N., Riera, C., De la Cruz, X., Diekhans, M., Huwe, P. J., Wei, Q., Xu, Q., Dunbrack, R. L., Gotea, V., Elnitski, L., Margolin, G., Fariselli, P., Kulakovskiy, I. V., Makeev, V. J., Penzar, D. D., Vorontsov, I. E., Favorov, A. V., Forman, J. R., Hasenahuer, M., Fornasari, M. S., Parisi, G., Avsec, Z., Çelik, M. H., Nguyen, T. Y. D., Gagneur, J., Shi, F. Y., Edwards, M. D., Guo, Y., Tian, K., Zeng, H., Gifford, D. K., Göke, J., Zaucha, J., Gough, J., Ritchie, G. R. S., Frankish, A., Mudge, J. M., Harrow, J., Young, E. L., Yu, Y., Huff, C. D., Murakami, K., Nagai, Y., Imanishi, T., Mungall, C. J., Jacobsen, J. O. B., Kim, D., Jeong, C. S., Jones, D. T., Li, M. J., Guthrie, V. B., Bhattacharya, R., Chen, Y. C., Douville, C., Fan, J., Kim, D., Masica, D., Niknafs, N., Sengupta, S., Tokheim, C., Turner, T. N., Yeo, H. T. G., Karchin, R., Shin, S., Welch, R., Keles, S., Li, Y., Kellis, M., Corbi-Verge, C., Strokach, A. V., Kim, P. M., Klein, T. E., Mohan, R., Sinnott-Armstrong, N. A., Wainberg, M., Kundaje, A., Gonzaludo, N., Mak, A. C. Y., Chhibber, A., Lam, H. Y. K., Dahary, D., Fishilevich, S., Lancet, D., Lee, I., Bachman, B., Katsonis, P., Lua, R. C., Wilson, S. J., Lichtarge, O., Bhat, R. R., Sundaram, L., Viswanath, V., Bellazzi, R., Nicora, G., Rizzo, E., Limongelli, I., Mezlini, A. M., Chang, R., Kim, S., Lai, C., O’Connor, R., Topper, S., van den Akker, J., Zhou, A. Y., Zimmer, A. D., Mishne, G., Bergquist, T. R., Breese, M. R., Guerrero, R. F., Jiang, Y., Kiga, N., Li, B., Mort, M., Pagel, K. A., Pejaver, V., Stamboulian, M. H., Thusberg, J., Mooney, S. D., Teerakulkittipong, N., Cao, C., Kundu, K., Yin, Y., Yu, C. H., Kleyman, M., Lin, C. F., Stackpole, M., Mount, S. M., Eraslan, G., Mueller, N. S., Naito, T., Rao, A. R., Azaria, J. R., Brodie, A., Ofran, Y., Garg, A., Pal, D., Hawkins-Hooker, A., Kenlay, H., Reid, J. & Mucaki, E. J., Dec 2024, In: Genome biology. 25, 1, 53.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    14 Scopus citations
  • Examining Sex Differences in Autism Heritability

    Sandin, S., Yip, B. H. K., Yin, W., Weiss, L. A., Dougherty, J. D., Fass, S., Constantino, J. N., Hailin, Z., Turner, T. N., Marrus, N., Gutmann, D. H., Sanders, S. J. & Christoffersson, B., Jul 3 2024, In: JAMA psychiatry. 81, 7, p. 673-680 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    7 Scopus citations
  • HAT: De novo variant calling for highly accurate short-read and long-read sequencing data

    Ng, J. K. & Turner, T. N., Jan 1 2024, In: Bioinformatics. 40, 1, btad775.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations