D
David Altshuler
Researcher at University of Michigan
Publications - 353
Citations - 226195
David Altshuler is an academic researcher from University of Michigan. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 162, co-authored 345 publications receiving 201782 citations. Previous affiliations of David Altshuler include Vertex Pharmaceuticals & Massachusetts Institute of Technology.
Papers
More filters
Journal ArticleDOI
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Jason Flannick,Jason Flannick,Gudmar Thorleifsson,Nicola L. Beer,Nicola L. Beer,Suzanne B.R. Jacobs,Niels Grarup,Noël P. Burtt,Anubha Mahajan,Christian Fuchsberger,Gil Atzmon,Rafn Benediktsson,John Blangero,Donald W. Bowden,Ivan Brandslund,Julia Brosnan,Frank Burslem,John C. Chambers,John C. Chambers,John C. Chambers,Yoon Shin Cho,Cramer Christensen,Desiree Douglas,Ravindranath Duggirala,Zachary Dymek,Yossi Farjoun,Timothy Fennell,Pierre Fontanillas,Tom Forsén,Stacey Gabriel,Benjamin Glaser,Daniel F. Gudbjartsson,Craig L. Hanis,Torben Hansen,Torben Hansen,Astradur B. Hreidarsson,Kristian Hveem,Erik Ingelsson,Erik Ingelsson,Bo Isomaa,Stefan Johansson,Torben Jørgensen,Torben Jørgensen,Marit E. Jørgensen,Sekar Kathiresan,Sekar Kathiresan,Augustine Kong,Jaspal S. Kooner,Jaspal S. Kooner,Jaspal S. Kooner,Jasmina Kravic,Markku Laakso,Jong-Young Lee,Lars Lind,Cecilia M. Lindgren,Cecilia M. Lindgren,Allan Linneberg,Gisli Masson,Thomas Meitinger,Karen L. Mohlke,Anders Molven,Andrew P. Morris,Andrew P. Morris,Shobha Potluri,Rainer Rauramaa,Rasmus Ribel-Madsen,Ann Marie Richard,Tim Rolph,Veikko Salomaa,Ayellet V. Segrè,Ayellet V. Segrè,Hanna Skärstrand,Valgerdur Steinthorsdottir,Heather M. Stringham,Patrick Sulem,E. Shyong Tai,Yik Ying Teo,Yik Ying Teo,Tanya M. Teslovich,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Jeff K. Trimmer,Tiinamaija Tuomi,Jaakko Tuomilehto,Jaakko Tuomilehto,Jaakko Tuomilehto,Fariba Vaziri-Sani,Benjamin F. Voight,Benjamin F. Voight,James G. Wilson,Michael Boehnke,Mark I. McCarthy,Mark I. McCarthy,Pål R. Njølstad,Pål R. Njølstad,Oluf Pedersen,Leif Groop,Leif Groop,David R. Cox,Kari Stefansson,Kari Stefansson,David Altshuler,David Altshuler,David Altshuler +103 more
TL;DR: In this article, the authors identified 12 rare protein-truncating variants in SLC30A8, which encodes an islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk and glucose and proinsulin levels.
Journal ArticleDOI
Challenges and standards in integrating surveys of structural variation.
Stephen W. Scherer,Charles Lee,Ewan Birney,David Altshuler,Evan E. Eichler,Nigel P. Carter,Matthew E. Hurles,Lars Feuk +7 more
TL;DR: The challenges in characterizing and documenting genomic structural variants are considered, and recommendations for standards to be adopted are derived to ensure the accurate presentation of this form of genetic variation to facilitate ongoing research.
Journal ArticleDOI
Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees
Wendy Winckler,Simon Myers,Daniel J. Richter,Robert C. Onofrio,Gavin J. McDonald,Ronald E. Bontrop,Gilean McVean,Stacey Gabriel,David Reich,Peter Donnelly,David Altshuler +10 more
TL;DR: Local patterns of recombination rate have evolved rapidly, in a manner disproportionate to the change in DNA sequence, in humans and chimpanzees, by analyzing polymorphism data in both species.
Journal ArticleDOI
Common Single Nucleotide Polymorphisms in TCF7L2 Are Reproducibly Associated With Type 2 Diabetes and Reduce the Insulin Response to Glucose in Nondiabetic Individuals
Richa Saxena,Lauren Gianniny,Noël P. Burtt,Valeriya Lyssenko,Candace Giuducci,Marketa Sjögren,Jose C. Florez,Peter Almgren,Bo Isomaa,Marju Orho-Melander,Ulf Lindblad,Mark J. Daly,Tiinamaija Tuomi,Joel N. Hirschhorn,Kristin G. Ardlie,Leif Groop,David Altshuler +16 more
TL;DR: It is suggested that TCF7L2 variants may act through insulin secretion to increase the risk of type 2 diabetes.
Journal ArticleDOI
Inactivating mutations in NPC1L1 and protection from coronary heart disease
Nathan O. Stitziel,Hong-Hee Won,Alanna C. Morrison,Gina M. Peloso,Ron Do,Leslie A. Lange,Pierre Fontanillas,Namrata Gupta,Stefano Duga,Anuj Goel,Martin Farrall,Danish Saleheen,Paola G. Ferrario,Inke R. König,Rosanna Asselta,Piera Angelica Merlini,Nicola Marziliano,Maria Francesca Notarangelo,Ursula M. Schick,Paul L. Auer,Themistocles L. Assimes,Muredach P. Reilly,Robert L. Wilensky,Daniel J. Rader,G. Kees Hovingh,Thomas Meitinger,Thorsten Kessler,Adnan Kastrati,Karl-Ludwig Laugwitz,David S. Siscovick,Jerome I. Rotter,Stanley L. Hazen,Russell P. Tracy,Sharon Cresci,John A. Spertus,Rebecca D. Jackson,Stephen M. Schwartz,Pradeep Natarajan,Jacy R Crosby,Donna M. Muzny,Christie M. Ballantyne,Stephen S. Rich,Christopher J. O'Donnell,Gonçalo R. Abecasis,Shamil R. Sunyaev,Deborah A. Nickerson,Julie E. Buring,Paul M. Ridker,Daniel I. Chasman,Erin Austin,Zi Ye,Iftikhar J. Kullo,Peter Weeke,Christian M. Shaffer,Lisa Bastarache,Joshua C. Denny,Dan M. Roden,Colin N. A. Palmer,Panos Deloukas,Danyu Lin,Zheng-Zheng Tang,Jeanette Erdmann,Heribert Schunkert,John Danesh,Jaume Marrugat,Roberto Elosua,Diego Ardissino,Ruth McPherson,Hugh Watkins,Alexander P. Reiner,James G. Wilson,David Altshuler,Richard A. Gibbs,Eric S. Lander,Eric Boerwinkle,Stacey Gabriel,Sekar Kathiresan +76 more
TL;DR: In this paper, the exons of the Niemann-Pick C1-like 1 (NPC1L1) protein were sequenced in 7364 patients with coronary heart disease and in 14,728 controls without such disease who were of European, African or South Asian ancestry.