Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …

A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data
collected on approximately 500,000 individuals from across the United Kingdom, aged …

Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …

Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …

The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …