1 OCTOBER 2015 | The 1000 Genomes Project Consortium*
The 1000 Genomes Project Consortium has completed a comprehensive study of human genetic variation by sequencing the genomes of 2,504 individuals from 26 populations. The project characterized over 88 million variants, including single nucleotide polymorphisms (SNPs), short insertions/deletions (indels), and structural variants, all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for various ancestries. The study provides insights into the distribution of genetic variation across global samples and its implications for common disease studies. The project has advanced understanding of genetic diversity and disease biology, enabling array design, genotype imputation, and variant cataloging. The data set reveals that a typical genome differs from the reference human genome at 4.1 million to 5.0 million sites, with structural variants affecting more bases than SNPs and indels. The analysis also highlights population structure, demography, and population differentiation, providing insights into the history and diversity of human populations. The project's impact on genetic association studies is discussed, including improved imputation accuracy and the identification of functional variants.The 1000 Genomes Project Consortium has completed a comprehensive study of human genetic variation by sequencing the genomes of 2,504 individuals from 26 populations. The project characterized over 88 million variants, including single nucleotide polymorphisms (SNPs), short insertions/deletions (indels), and structural variants, all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for various ancestries. The study provides insights into the distribution of genetic variation across global samples and its implications for common disease studies. The project has advanced understanding of genetic diversity and disease biology, enabling array design, genotype imputation, and variant cataloging. The data set reveals that a typical genome differs from the reference human genome at 4.1 million to 5.0 million sites, with structural variants affecting more bases than SNPs and indels. The analysis also highlights population structure, demography, and population differentiation, providing insights into the history and diversity of human populations. The project's impact on genetic association studies is discussed, including improved imputation accuracy and the identification of functional variants.