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

Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

The etiopathogenesis of endometriosis is a multifactorial process resulting in a
heterogeneous disease. Considering that endometriosis etiology and pathogenesis are still …

Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

More than one in three adults worldwide is either overweight or obese. Epidemiological
studies indicate that the location and distribution of excess fat, rather than general adiposity …

Objectives Genome‐wide association studies (GWAS) have become increasingly popular to
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …

Recent advances in high-throughput technologies have enabled the profiling of multiple
layers of a biological system, including DNA sequence data (genomics), RNA expression …

Executive summary Alzheimer's disease (AD) is the leading cause of dementia, and
because the primary risk factor for AD is old age, the prevalence of the disease is increasing …

In recent decades, there has been a major shift in the way researchers process and
understand scientific data. Digital access to data has revolutionized ways of doing science in …

The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …