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Sarah B H Ng
Researcher at University of Washington
Publications - 2
Citations - 3826
Sarah B H Ng is an academic researcher from University of Washington. The author has contributed to research in topics: Exome sequencing & International HapMap Project. The author has an hindex of 2, co-authored 2 publications receiving 3661 citations.
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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.