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

Recent advances in next-generation sequencing technologies have transformed the
genetics study of human diseases; this is an era of unprecedented productivity. Exome …

Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Exome sequencing and the genetic basis of complex traits | Nature Genetics Skip to main
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Over the next few years, the efficient use of next-generation sequencing (NGS) in human
genetics research will depend heavily upon the effective mechanisms for the selective …

Whole exome sequencing by high-throughput sequencing of target-enriched genomic DNA
(exome-seq) has become common in basic and translational research as a means of …

Background There is considerable interest in the development of methods to efficiently
identify all coding variants present in large sample sets of humans. There are three …

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 …

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

Targeted capture combined with massively parallel exome sequencing is a promising
approach to identify genetic variants implicated in human traits. We report exome …