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A global reference for human genetic variation
  • Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, A. Auton, +73 authors Shane A. McCarthy
  • Biology, Medicine
  • Nature
  • 30 September 2015
TLDR
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping. Expand
The Structure of Haplotype Blocks in the Human Genome
TLDR
It is shown that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed. Expand
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.Expand
A second generation human haplotype map of over 3.1 million SNPs
TLDR
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated. Expand
Integrating common and rare genetic variation in diverse human populations
TLDR
An expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation. Expand
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
We conducted a genome-wide association study for type 2 diabetes (T2D) in Icelandic cases and controls, and we found that a previously described variant in the transcription factor 7-like 2 geneExpand
A Genome-Wide Association Study of Hypertension and Blood Pressure in African Americans
TLDR
The findings suggests that, in addition to or in lieu of relying solely on replicated variants of moderate-to-large effect reaching genome-wide significance, pathway and network approaches may be useful in identifying and prioritizing candidate genes/loci for further experiments. Expand
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
TLDR
Results from eight case-control groups demonstrate that this variant in TCF2 (HNF1β), a gene known to be mutated in individuals with maturity-onset diabetes of the young type 5, confers protection against type 2 diabetes. Expand
Replicating genotype–phenotype associations
What constitutes replication of a genotype–phenotype association, and how best can it be achieved?
Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution
TLDR
Another variant of the TCF7L2 type 2 diabetes risk variant, HapBT2D, is identified that shows evidence of positive selection in East Asian, European and West African populations, indicating that the selective advantage of HapA may have been mediated through effects on energy metabolism. Expand
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