Recent advances in sequencing technology make it possible to comprehensively catalog
genetic variation in population samples, creating a foundation for understanding human …

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 …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non-European …

Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

Technological advances make it possible to use high-throughput sequencing as a primary
discovery tool of medical genetics, specifically for assaying rare variation. Still this approach …

More than 1,000 susceptibility loci have been identified through genome-wide association
studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of …

X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes
in female mammalian cells to balance expression dosage between XX females and XY …

Myocardial infarction (MI), a leading cause of death around the world, displays a complex
pattern of inheritance 1 , 2 . When MI occurs early in life, genetic inheritance is a major …