The DNA sequence of human chromosome 7

La Deana W. Hillier; Robert S. Fulton; Lucinda A. Fulton; Tina A. Graves; Kymberlie H. Pepin; Caryn Wagner-McPherson; Dan Layman; Jason Maas; Sara Jaeger; Rebecca Walker; Kristine Wylie; Mandeep Sekhon; Michael C. Becker; Michelle D. O'Laughlin; Mark E. Schaller; Ginger A. Fewell; Kimberly D. Delehaunty; Tracie L. Miner; William E. Nash; Matt Cordes; Hui Du; Hui Sun; Jennifer Edwards; Holland Bradshaw-Cordum; Johar Ali; Stephanie Andrews; Amber Isak; Andrew Van Brunt; Christine Nguyen; Feiyu Du; Betty Lamar; Laura Courtney; Joelle Kalicki; Philip Ozersky; Lauren Bielicki; Kelsi Scott; Andrea Holmes; Richard Harkins; Anthony Harris; Cynthia Madsen Strong; Shunfang Hou; Chad Tomlinson; Sara Dauphin-Kohlberg; Amy Kozlowicz-Reilly; Shawn Leonard; Theresa Rohlfing; Susan M. Rock; Aye Mon Tin-Wollam; Amanda Abbott; Patrick Minx; Rachel Maupin; Catrina Strowmatt; Phil Latreille; Nancy Miller; Doug Johnson; Jennifer Murray; Jeffrey P. Woessner; Michael C. Wendl; Shiaw Pyng Yang; Brian R. Schultz; John W. Wallis; John Spieth; Tamberlyn A. Bieri; Joanne O. Nelson; Nicolas Berkowicz; Patricia E. Wohldmann; Lisa L. Cook; Matthew T. Hickenbotham; James Eldred; Donald Williams; Joseph A. Bedell; Elaine R. Mardis; Sandra W. Clifton; Stephanie L. Chissoe; Marco A. Marra; Christopher Raymond; Eric Haugen; Will Gillett; Yang Zhou; Rose James; Karen Phelps; Shawn Iadanoto; Kerry Bubb; Elizabeth Simms; Ruth Levy; James Clendenning; Rajinder Kaul; W. James Kent; Terrence S. Furey; Robert A. Baertsch; Michael R. Brent; Evan Keibler; Paul Flicek; Peer Borkk; Mikita Suyamak; Jeffrey A. Bailey; Matthew E. Portnoy; David Torrentsk; Asif T. Chinwalla; Warren R. Gish; Sean R. Eddy; John D. McPherson; Maynard V. Olson; Evan E. Eichler; Eric D. Green; Robert H. Waterston; Richard K. Wilson

doi:10.1038/nature01782

The DNA sequence of human chromosome 7

La Deana W. Hillier, Robert S. Fulton, Lucinda A. Fulton, Tina A. Graves, Kymberlie H. Pepin, Caryn Wagner-McPherson, Dan Layman, Jason Maas, Sara Jaeger, Rebecca Walker, Kristine Wylie, Mandeep Sekhon, Michael C. Becker, Michelle D. O'Laughlin, Mark E. Schaller, Ginger A. Fewell, Kimberly D. Delehaunty, Tracie L. Miner, William E. Nash, Matt CordesHui Du, Hui Sun, Jennifer Edwards, Holland Bradshaw-Cordum, Johar Ali, Stephanie Andrews, Amber Isak, Andrew Van Brunt, Christine Nguyen, Feiyu Du, Betty Lamar, Laura Courtney, Joelle Kalicki, Philip Ozersky, Lauren Bielicki, Kelsi Scott, Andrea Holmes, Richard Harkins, Anthony Harris, Cynthia Madsen Strong, Shunfang Hou, Chad Tomlinson, Sara Dauphin-Kohlberg, Amy Kozlowicz-Reilly, Shawn Leonard, Theresa Rohlfing, Susan M. Rock, Aye Mon Tin-Wollam, Amanda Abbott, Patrick Minx, Rachel Maupin, Catrina Strowmatt, Phil Latreille, Nancy Miller, Doug Johnson, Jennifer Murray, Jeffrey P. Woessner, Michael C. Wendl, Shiaw Pyng Yang, Brian R. Schultz, John W. Wallis, John Spieth, Tamberlyn A. Bieri, Joanne O. Nelson, Nicolas Berkowicz, Patricia E. Wohldmann, Lisa L. Cook, Matthew T. Hickenbotham, James Eldred, Donald Williams, Joseph A. Bedell, Elaine R. Mardis, Sandra W. Clifton, Stephanie L. Chissoe, Marco A. Marra, Christopher Raymond, Eric Haugen, Will Gillett, Yang Zhou, Rose James, Karen Phelps, Shawn Iadanoto, Kerry Bubb, Elizabeth Simms, Ruth Levy, James Clendenning, Rajinder Kaul, W. James Kent, Terrence S. Furey, Robert A. Baertsch, Michael R. Brent, Evan Keibler, Paul Flicek, Peer Borkk, Mikita Suyamak, Jeffrey A. Bailey, Matthew E. Portnoy, David Torrentsk, Asif T. Chinwalla, Warren R. Gish, Sean R. Eddy, John D. McPherson, Maynard V. Olson, Evan E. Eichler, Eric D. Green, Robert H. Waterston, Richard K. Wilson

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

223 Scopus citations

Abstract

Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

Original language	English
Pages (from-to)	157-164
Number of pages	8
Journal	Nature
Volume	424
Issue number	6945
DOIs	https://doi.org/10.1038/nature01782
State	Published - Jul 10 2003

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Hillier, L. D. W., Fulton, R. S., Fulton, L. A., Graves, T. A., Pepin, K. H., Wagner-McPherson, C., Layman, D., Maas, J., Jaeger, S., Walker, R., Wylie, K., Sekhon, M., Becker, M. C., O'Laughlin, M. D., Schaller, M. E., Fewell, G. A., Delehaunty, K. D., Miner, T. L., Nash, W. E., ... Wilson, R. K. (2003). The DNA sequence of human chromosome 7. Nature, 424(6945), 157-164. https://doi.org/10.1038/nature01782

@article{2de544e0641043c0b14259ab1032d14a,

title = "The DNA sequence of human chromosome 7",

abstract = "Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.",

author = "Hillier, {La Deana W.} and Fulton, {Robert S.} and Fulton, {Lucinda A.} and Graves, {Tina A.} and Pepin, {Kymberlie H.} and Caryn Wagner-McPherson and Dan Layman and Jason Maas and Sara Jaeger and Rebecca Walker and Kristine Wylie and Mandeep Sekhon and Becker, {Michael C.} and O'Laughlin, {Michelle D.} and Schaller, {Mark E.} and Fewell, {Ginger A.} and Delehaunty, {Kimberly D.} and Miner, {Tracie L.} and Nash, {William E.} and Matt Cordes and Hui Du and Hui Sun and Jennifer Edwards and Holland Bradshaw-Cordum and Johar Ali and Stephanie Andrews and Amber Isak and {Van Brunt}, Andrew and Christine Nguyen and Feiyu Du and Betty Lamar and Laura Courtney and Joelle Kalicki and Philip Ozersky and Lauren Bielicki and Kelsi Scott and Andrea Holmes and Richard Harkins and Anthony Harris and Strong, {Cynthia Madsen} and Shunfang Hou and Chad Tomlinson and Sara Dauphin-Kohlberg and Amy Kozlowicz-Reilly and Shawn Leonard and Theresa Rohlfing and Rock, {Susan M.} and Tin-Wollam, {Aye Mon} and Amanda Abbott and Patrick Minx and Rachel Maupin and Catrina Strowmatt and Phil Latreille and Nancy Miller and Doug Johnson and Jennifer Murray and Woessner, {Jeffrey P.} and Wendl, {Michael C.} and Yang, {Shiaw Pyng} and Schultz, {Brian R.} and Wallis, {John W.} and John Spieth and Bieri, {Tamberlyn A.} and Nelson, {Joanne O.} and Nicolas Berkowicz and Wohldmann, {Patricia E.} and Cook, {Lisa L.} and Hickenbotham, {Matthew T.} and James Eldred and Donald Williams and Bedell, {Joseph A.} and Mardis, {Elaine R.} and Clifton, {Sandra W.} and Chissoe, {Stephanie L.} and Marra, {Marco A.} and Christopher Raymond and Eric Haugen and Will Gillett and Yang Zhou and Rose James and Karen Phelps and Shawn Iadanoto and Kerry Bubb and Elizabeth Simms and Ruth Levy and James Clendenning and Rajinder Kaul and Kent, {W. James} and Furey, {Terrence S.} and Baertsch, {Robert A.} and Brent, {Michael R.} and Evan Keibler and Paul Flicek and Peer Borkk and Mikita Suyamak and Bailey, {Jeffrey A.} and Portnoy, {Matthew E.} and David Torrentsk and Chinwalla, {Asif T.} and Gish, {Warren R.} and Eddy, {Sean R.} and McPherson, {John D.} and Olson, {Maynard V.} and Eichler, {Evan E.} and Green, {Eric D.} and Waterston, {Robert H.} and Wilson, {Richard K.}",

year = "2003",

month = jul,

day = "10",

doi = "10.1038/nature01782",

language = "English",

volume = "424",

pages = "157--164",

journal = "Nature",

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number = "6945",

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Hillier, LDW, Fulton, RS , Fulton, LA , Graves, TA, Pepin, KH, Wagner-McPherson, C, Layman, D, Maas, J, Jaeger, S, Walker, R, Wylie, K, Sekhon, M, Becker, MC, O'Laughlin, MD, Schaller, ME, Fewell, GA, Delehaunty, KD, Miner, TL, Nash, WE, Cordes, M, Du, H, Sun, H, Edwards, J, Bradshaw-Cordum, H, Ali, J, Andrews, S, Isak, A, Van Brunt, A, Nguyen, C, Du, F, Lamar, B, Courtney, L, Kalicki, J, Ozersky, P, Bielicki, L, Scott, K, Holmes, A, Harkins, R, Harris, A, Strong, CM, Hou, S, Tomlinson, C, Dauphin-Kohlberg, S, Kozlowicz-Reilly, A, Leonard, S, Rohlfing, T, Rock, SM, Tin-Wollam, AM, Abbott, A, Minx, P, Maupin, R, Strowmatt, C, Latreille, P, Miller, N, Johnson, D, Murray, J, Woessner, JP, Wendl, MC, Yang, SP, Schultz, BR, Wallis, JW, Spieth, J, Bieri, TA, Nelson, JO, Berkowicz, N, Wohldmann, PE, Cook, LL, Hickenbotham, MT, Eldred, J, Williams, D, Bedell, JA, Mardis, ER, Clifton, SW, Chissoe, SL, Marra, MA, Raymond, C, Haugen, E, Gillett, W, Zhou, Y, James, R, Phelps, K, Iadanoto, S, Bubb, K, Simms, E, Levy, R, Clendenning, J, Kaul, R, Kent, WJ, Furey, TS, Baertsch, RA, Brent, MR, Keibler, E, Flicek, P, Borkk, P, Suyamak, M, Bailey, JA, Portnoy, ME, Torrentsk, D, Chinwalla, AT, Gish, WR, Eddy, SR, McPherson, JD, Olson, MV, Eichler, EE, Green, ED, Waterston, RH & Wilson, RK 2003, 'The DNA sequence of human chromosome 7', Nature, vol. 424, no. 6945, pp. 157-164. https://doi.org/10.1038/nature01782

TY - JOUR

T1 - The DNA sequence of human chromosome 7

AU - Hillier, La Deana W.

AU - Fulton, Robert S.

AU - Fulton, Lucinda A.

AU - Graves, Tina A.

AU - Pepin, Kymberlie H.

AU - Wagner-McPherson, Caryn

AU - Layman, Dan

AU - Maas, Jason

AU - Jaeger, Sara

AU - Walker, Rebecca

AU - Wylie, Kristine

AU - Sekhon, Mandeep

AU - Becker, Michael C.

AU - O'Laughlin, Michelle D.

AU - Schaller, Mark E.

AU - Fewell, Ginger A.

AU - Delehaunty, Kimberly D.

AU - Miner, Tracie L.

AU - Nash, William E.

AU - Cordes, Matt

AU - Du, Hui

AU - Sun, Hui

AU - Edwards, Jennifer

AU - Bradshaw-Cordum, Holland

AU - Ali, Johar

AU - Andrews, Stephanie

AU - Isak, Amber

AU - Van Brunt, Andrew

AU - Nguyen, Christine

AU - Du, Feiyu

AU - Lamar, Betty

AU - Courtney, Laura

AU - Kalicki, Joelle

AU - Ozersky, Philip

AU - Bielicki, Lauren

AU - Scott, Kelsi

AU - Holmes, Andrea

AU - Harkins, Richard

AU - Harris, Anthony

AU - Strong, Cynthia Madsen

AU - Hou, Shunfang

AU - Tomlinson, Chad

AU - Dauphin-Kohlberg, Sara

AU - Kozlowicz-Reilly, Amy

AU - Leonard, Shawn

AU - Rohlfing, Theresa

AU - Rock, Susan M.

AU - Tin-Wollam, Aye Mon

AU - Abbott, Amanda

AU - Minx, Patrick

AU - Maupin, Rachel

AU - Strowmatt, Catrina

AU - Latreille, Phil

AU - Miller, Nancy

AU - Johnson, Doug

AU - Murray, Jennifer

AU - Woessner, Jeffrey P.

AU - Wendl, Michael C.

AU - Yang, Shiaw Pyng

AU - Schultz, Brian R.

AU - Wallis, John W.

AU - Spieth, John

AU - Bieri, Tamberlyn A.

AU - Nelson, Joanne O.

AU - Berkowicz, Nicolas

AU - Wohldmann, Patricia E.

AU - Cook, Lisa L.

AU - Hickenbotham, Matthew T.

AU - Eldred, James

AU - Williams, Donald

AU - Bedell, Joseph A.

AU - Mardis, Elaine R.

AU - Clifton, Sandra W.

AU - Chissoe, Stephanie L.

AU - Marra, Marco A.

AU - Raymond, Christopher

AU - Haugen, Eric

AU - Gillett, Will

AU - Zhou, Yang

AU - James, Rose

AU - Phelps, Karen

AU - Iadanoto, Shawn

AU - Bubb, Kerry

AU - Simms, Elizabeth

AU - Levy, Ruth

AU - Clendenning, James

AU - Kaul, Rajinder

AU - Kent, W. James

AU - Furey, Terrence S.

AU - Baertsch, Robert A.

AU - Brent, Michael R.

AU - Keibler, Evan

AU - Flicek, Paul

AU - Borkk, Peer

AU - Suyamak, Mikita

AU - Bailey, Jeffrey A.

AU - Portnoy, Matthew E.

AU - Torrentsk, David

AU - Chinwalla, Asif T.

AU - Gish, Warren R.

AU - Eddy, Sean R.

AU - McPherson, John D.

AU - Olson, Maynard V.

AU - Eichler, Evan E.

AU - Green, Eric D.

AU - Waterston, Robert H.

AU - Wilson, Richard K.

PY - 2003/7/10

Y1 - 2003/7/10

N2 - Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

AB - Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated with various forms of cancer. Here we present more than 153 million base pairs representing 99.4% of the euchromatic sequence of chromosome 7, the first metacentric chromosome completed so far. The sequence has excellent concordance with previously established physical and genetic maps, and it exhibits an unusual amount of segmentally duplicated sequence (8.2%), with marked differences between the two arms. Our initial analyses have identified 1,150 protein-coding genes, 605 of which have been confirmed by complementary DNA sequences, and an additional 941 pseudogenes. Of genes confirmed by transcript sequences, some are polymorphic for mutations that disrupt the reading frame.

UR - http://www.scopus.com/inward/record.url?scp=0038495746&partnerID=8YFLogxK

U2 - 10.1038/nature01782

DO - 10.1038/nature01782

M3 - Article

C2 - 12853948

AN - SCOPUS:0038495746

SN - 0028-0836

VL - 424

SP - 157

EP - 164

JO - Nature

JF - Nature

IS - 6945

ER -

The DNA sequence of human chromosome 7

Abstract

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