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The Structure of Haplotype Blocks in the Human Genome
- S. Gabriel, S. Schaffner, +15 authors D. Altshuler
- Biology, Medicine
- Science
- 23 May 2002
Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose. As part of The SNP… Expand
A map of human genome variation from population-scale sequencing
- G. Abecasis, D. Altshuler, +5 authors G. McVean
- Biology, Medicine
- Nature
- 1 October 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present… Expand
A second generation human haplotype map of over 3.1 million SNPs
- K. Frazer, D. Ballinger, +234 authors J. Stewart
- Biology, Medicine
- Nature
- 18 October 2007
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and… Expand
Detecting recent positive selection in the human genome from haplotype structure
- Pardis C Sabeti, D. Reich, +14 authors E. Lander
- Medicine, Biology
- Nature
- 24 October 2002
The ability to detect recent natural selection in the human population would have profound implications for the study of human history and for medicine. Here, we introduce a framework for detecting… Expand
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
- R. Sachidanandam, D. Weissman, +38 authors D. Altshuler
- Medicine, Biology
- Nature
- 15 February 2001
We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP every 1.9 kilobases.… Expand
Calibrating a coalescent simulation of human genome sequence variation.
- S. Schaffner, C. Foo, S. Gabriel, D. Reich, M. Daly, D. Altshuler
- Biology, Medicine
- Genome research
- 1 November 2005
Population genetic models play an important role in human genetic research, connecting empirical observations about sequence variation with hypotheses about underlying historical and biological… Expand
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
- R. Saxena, B. Voight, +64 authors S. Purcell
- Biology, Medicine
- Science
- 1 June 2007
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (SNPs) in 1464 patients… Expand
Genetic Mapping in Human Disease
- D. Altshuler, M. Daly, E. Lander
- Biology, Medicine
- Science
- 7 November 2008
Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual… Expand
Positive Natural Selection in the Human Lineage
- P. Sabeti, S. Schaffner, +7 authors E. Lander
- Medicine, Biology
- Science
- 16 June 2006
Positive natural selection is the force that drives the increase in prevalence of advantageous traits, and it has played a central role in our development as a species. Until recently, the study of… Expand
Characterization of single-nucleotide polymorphisms in coding regions of human genes
- M. Cargill, D. Altshuler, +14 authors E. Lander
- 1999
A major goal in human genetics is to understand the role of common genetic variants in susceptibility to common diseases. This will require characterizing the nature of gene variation in human… Expand
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