… the genetic contribution to disease. We describe the genomes of 1,092 individuals from 14
populations, constructed using a combination of low-coverage whole-genome and exome …

… understand the genetic contribution to disease. Here we describe the genomes of 1,092
individuals … of low-coverage whole-genome and exome sequencing. By developing methods to …

… By characterizing the geographic and functional spectrum of human genetic variation, the
1000 Genomes Project aims to build a resource to help to understand the genetic contribution …

… variants with a frequency of >1% for a variety of ancestries. We describe the distribution of
genetic variation … We find that a typical genome differs from the reference human genome at …

… variants with a frequency of >1% for a variety of ancestries. We describe the distribution of
genetic variation … We find that a typical genome differs from the reference human genome at …

… variants ≥50 bp) in diverse populations and to generate a statistically phased reference panel
with these SVs. Here we report an integrated map … other forms of genetic variation (RVIS = …

… We have long been aware of genetic variation at either size extreme — cytogenetically
recognizable segments 4 and single-nucleotide polymorphisms (SNPs) 5,6 . About 10 years ago, …

… The discovery of genetic variation and the assembly of genome … genetic variation but is
insufficient to generate high-quality genome assemblies or resolve most structural variation. Full …

… Per-genome SV counts are broadly consistent and vary as expected on the basis of
ancestry, with more genetic variation in individuals of African ancestry and fewer singletons in …

… the human genomics … integrating genetic variants with genome annotations is to provide
a flexible framework from which to explore genetic variation for disease and population genetic …