M
Michael J. Bamshad
Researcher at University of Washington
Publications - 380
Citations - 39153
Michael J. Bamshad is an academic researcher from University of Washington. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 86, co-authored 334 publications receiving 35118 citations. Previous affiliations of Michael J. Bamshad include Seattle Children's & Shriners Hospitals for Children.
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Journal ArticleDOI
Exome sequencing identifies the cause of a Mendelian disorder
Sarah B H Ng,Kati J. Buckingham,Choli Lee,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Karin M. Dent,Chad D. Huff,Paul Shannon,Ethylin Wang Jabs,Ethylin Wang Jabs,Deborah A. Nickerson,Jay Shendure,Michael J. Bamshad,Michael J. Bamshad +14 more
TL;DR: Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
Journal ArticleDOI
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B H Ng,Emily H. Turner,Peggy D. Robertson,Steven D. Flygare,Abigail W. Bigham,Choli Lee,Tristan Shaffer,Michelle Wong,Arindam Bhattacharjee,Evan E. Eichler,Michael J. Bamshad,Deborah A. Nickerson,Jay Shendure +12 more
TL;DR: It is shown that candidate genes for Mendelian disorders can be identified by exome sequencing of a small number of unrelated, affected individuals, and may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact.
Journal ArticleDOI
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
Jacob A. Tennessen,Abigail W. Bigham,Timothy D. O’Connor,Wenqing Fu,Eimear E. Kenny,Simon Gravel,Sean McGee,Ron Do,Ron Do,Xiaoming Liu,Goo Jun,Hyun Min Kang,Daniel M. Jordan,Suzanne M. Leal,Stacey Gabriel,Mark J. Rieder,Gonçalo R. Abecasis,David Altshuler,Deborah A. Nickerson,Eric Boerwinkle,Eric Boerwinkle,Shamil R. Sunyaev,Shamil R. Sunyaev,Carlos Bustamante,Michael J. Bamshad,Joshua M. Akey +25 more
TL;DR: The findings suggest that most human variation is rare, not shared between populations, and that rare variants are likely to play a role in human health, and show that large sample sizes will be required to associate rare variants with complex traits.
Journal ArticleDOI
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad,Sarah B. Ng,Abigail W. Bigham,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Mary J. Emond,Deborah A. Nickerson,Jay Shendure +8 more
TL;DR: Experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders and set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.
Journal ArticleDOI
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng,Abigail W. Bigham,Kati J. Buckingham,Mark C. Hannibal,Mark C. Hannibal,Margaret J. McMillin,Heidi I. S. Gildersleeve,Anita E. Beck,Anita E. Beck,Holly K. Tabor,Holly K. Tabor,Gregory M. Cooper,Heather C Mefford,Choli Lee,Emily H. Turner,Joshua D. Smith,Mark J. Rieder,Koh-ichiro Yoshiura,Naomichi Matsumoto,Tohru Ohta,Norio Niikawa,Deborah A. Nickerson,Michael J. Bamshad,Michael J. Bamshad,Jay Shendure +24 more
TL;DR: The results strongly suggest that mutations in MLL2, which encodes a Trithorax-group histone methyltransferase, are a major cause of Kabuki syndrome.