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 …

Objectives Children waiting for organ transplants continue to die because of the shortage of
available organs. Studies of organ donation in children are scarce. The evaluation of the …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated
heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) …

Background There are more than 300 known red blood cell (RBC) antigens and 33 platelet
antigens that differ between individuals. Sensitisation to antigens is a serious complication …

Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …

In the United States, biliary atresia (BA) is the most frequent indication for liver transplantation
in pediatric patients. BA is a complex disease, with suspected environmental and genetic …

Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …

BACKGROUND & AIMS: Biliary atresia (BA) is a progressive fibroinflammatory disorder of
infants involving the extrahepatic and intrahepatic biliary tree. Its etiology is unclear but is …

Compelling evidence suggests that human cognitive function is strongly influenced by
genetics. Here, we conduct a large-scale exome study to examine whether rare protein-coding …

Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …