Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

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

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Establishing the age of each mutation segregating in contemporary human populations is
important to fully understand our evolutionary history, and will help to facilitate the …

Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …

Abstract 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 …

Accurate and complete analysis of genome variation in large populations will be required to
understand the role of genome variation in complex disease. We present an analytical …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Worldwide, hundreds of thousands of humans have had their genomes or exomes
sequenced, and access to the resulting data sets can provide valuable information for …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …