A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …

The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public partnership
between the UK Biobank (UKB) and eight biopharmaceutical companies that will complete …

The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic
and genotypic data with streamlined access for researchers around the world 1 . Here …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Monoubiquitination serves as a regulatory signal in a variety of cellular processes. Monoubiquitin
signals are transmitted by binding to a small but rapidly expanding class of ubiquitin …

The Alzheimer’s Disease Sequencing Project (ADSP) undertook whole exome sequencing
in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls …

Background As resequencing projects become more prevalent across a larger number of
species, accurate variant identification will further elucidate the nature of genetic diversity and …

Background Characterizing large genomic variants is essential to expanding the research
and clinical applications of genome sequencing. While multiple data types and methods are …

The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic
and genotypic data with streamlined access for researchers around the world. Here we …

Background Structural variants (SVs) are critical contributors to genetic diversity and genomic
disease. To predict the phenotypic impact of SVs, there is a need for better estimates of …