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.
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Journal ArticleDOI
Copy-number variation and association studies of human disease
TL;DR: Evidence that CNVs affect phenotypes is discussed, directions for basic knowledge to support clinical study of CNVs, the challenge of genotyping CNPs in clinical cohorts, the use of SNPs as markers for CNPs and statistical challenges in testing CNVs for association with disease are discussed.
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Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Robert R. Graham,Chris Cotsapas,Chris Cotsapas,Leela Davies,Rachel Hackett,Christopher J. Lessard,Christopher J. Lessard,Joanlise M. Leon,Noël P. Burtt,Candace Guiducci,Melissa Parkin,Casey Gates,Robert M. Plenge,Timothy W. Behrens,Joan E. Wither,John D. Rioux,Paul R. Fortin,Paul R. Fortin,Deborah S. Cunninghame Graham,Andrew Wong,Timothy J. Vyse,Mark J. Daly,Mark J. Daly,David Altshuler,Kathy L. Moser,Patrick M. Gaffney +25 more
TL;DR: A genome-wide association scan and replication study and evidence of two independent signals near TNFAIP3 associated with SLE, including one previously associated with rheumatoid arthritis are found.
Journal ArticleDOI
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
Robert M. Plenge,Robert M. Plenge,Robert M. Plenge,Chris Cotsapas,Chris Cotsapas,Leela Davies,Alkes L. Price,Alkes L. Price,Paul I.W. de Bakker,Paul I.W. de Bakker,Julian Maller,Julian Maller,Itsik Pe'er,Noël P. Burtt,Brendan Blumenstiel,Matt DeFelice,Melissa Parkin,Rachel Barry,Wendy Winslow,Claire Healy,Robert R. Graham,Robert R. Graham,Benjamin M. Neale,Benjamin M. Neale,Benjamin M. Neale,Elena S. Izmailova,Ronenn Roubenoff,Alex Parker,Roberta Glass,Elizabeth W. Karlson,Nancy E. Maher,David A. Hafler,David A. Hafler,David M. Lee,Michael F. Seldin,Elaine F. Remmers,Annette Lee,Leonid Padyukov,Lars Alfredsson,Jonathan S. Coblyn,Michael E. Weinblatt,Stacey Gabriel,Shaun Purcell,Shaun Purcell,Lars Klareskog,Peter K. Gregersen,Nancy A. Shadick,Mark J. Daly,Mark J. Daly,David Altshuler,David Altshuler +50 more
TL;DR: It is shown that these two SNP associations are statistically independent, are each reproducible in the comparison of the authors' data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23.
Journal ArticleDOI
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.
Robert M. Plenge,Leonid Padyukov,Elaine F. Remmers,Shaun Purcell,Annette Lee,Elizabeth W. Karlson,Frederick Wolfe,Daniel L. Kastner,Lars Alfredsson,David Altshuler,Peter K. Gregersen,Lars Klareskog,John D. Rioux,John D. Rioux,John D. Rioux +14 more
TL;DR: Support is provided for PTPN22, CTLA4, and PADI4 as RA susceptibility genes and novel associations with clinically relevant subsets of RA are demonstrated.
Journal ArticleDOI
Validating therapeutic targets through human genetics
TL;DR: The concept of dose–response curves derived from experiments of nature are described, with an emphasis on human genetics as a valuable tool to prioritize molecular targets in drug development.