Jay Shendure
Jay Shendure
Professor of Genome Sciences, University of Washington
Verified email at uw.edu
TitleCited byYear
Next-generation DNA sequencing
J Shendure, H Ji
Nature biotechnology 26 (10), 1135, 2008
47862008
A general framework for estimating the relative pathogenicity of human genetic variants
M Kircher, DM Witten, P Jain, BJ O'Roak, GM Cooper, J Shendure
Nature genetics 46 (3), 310, 2014
32432014
Targeted capture and massively parallel sequencing of 12 human exomes
SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ...
Nature 461 (7261), 272-276, 2009
20852009
Exome sequencing identifies the cause of a mendelian disorder
SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ...
Nature genetics 42 (1), 30, 2010
20812010
Accurate multiplex polony sequencing of an evolved bacterial genome
J Shendure, GJ Porreca, NB Reppas, X Lin, JP McCutcheon, ...
Science 309 (5741), 1728-1732, 2005
17562005
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246-250, 2012
17362012
Exome sequencing as a tool for Mendelian disease gene discovery
MJ Bamshad, SB Ng, AW Bigham, HK Tabor, MJ Emond, DA Nickerson, ...
Nature Reviews Genetics 12 (11), 745-755, 2011
16102011
The complete genome sequence of a Neanderthal from the Altai Mountains
K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ...
Nature 505 (7481), 43-49, 2014
13852014
A high-coverage genome sequence from an archaic Denisovan individual
M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ...
Science 338 (6104), 222-226, 2012
13692012
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216-221, 2014
12632014
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ...
Nature genetics 42 (9), 790, 2010
12412010
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ...
Nature genetics 43 (6), 585, 2011
11342011
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
JC Roach, G Glusman, AFA Smit, CD Huff, R Hubley, PT Shannon, ...
Science 328 (5978), 636-639, 2010
10512010
Target-enrichment strategies for next-generation sequencing
L Mamanova, AJ Coffey, CE Scott, I Kozarewa, EH Turner, A Kumar, ...
Nature methods 7 (2), 111, 2010
10332010
Guidelines for investigating causality of sequence variants in human disease
DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...
Nature 508 (7497), 469-476, 2014
9592014
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
9322012
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer
M Peifer, L Fernández-Cuesta, ML Sos, J George, D Seidel, LH Kasper, ...
Nature genetics 44 (10), 1104, 2012
8742012
A three-dimensional model of the yeast genome
Z Duan, M Andronescu, K Schutz, S McIlwain, YJ Kim, C Lee, J Shendure, ...
Nature 465 (7296), 363-367, 2010
8452010
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
W Fu, TD O’connor, G Jun, HM Kang, G Abecasis, SM Leal, S Gabriel, ...
Nature 493 (7431), 216-220, 2013
8112013
Advanced sequencing technologies: methods and goals
J Shendure, RD Mitra, C Varma, GM Church
Nature Reviews Genetics 5 (5), 335-344, 2004
7052004
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