Autores
International HapMap Consortium
Fecha de publicación
2007/10/10
Revista
Nature
Volumen
449
Número
7164
Páginas
851
Editor
Europe PMC Funders
Descripción
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 includes 25–35% of common SNP variation in the populations surveyed. The map is estimated to capture untyped common variation with an average maximum r 2 of between 0.9 and 0.96 depending on population. We demonstrate that the current generation of commercial genome-wide genotyping products captures common Phase II SNPs with an average maximum r 2 of up to 0.8 in African and up to 0.95 in non-African populations, and that potential gains in power in association studies can be obtained through imputation. These data also reveal novel aspects of the structure of linkage disequilibrium. We show that 10–30% of pairs of individuals within a population share at least one region of extended genetic …
Citas totales
Artículos de Google Académico
International HapMap Consortium - Nature, 2007
… Consortium Altshuler David altshuler@ molbio. mgh … - Nature, 2005