A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each
parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding …

The unprecedented rate of extinction calls for efficient use of genetics to help conserve
biodiversity. Several recent genomic and simulation-based studies have argued that the …

This scientometric review of genome-wide association studies (GWAS) from 2005 to 2018
(3639 studies; 3508 traits) reveals extraordinary increases in sample sizes, rates of …

Characterizing the transcriptome of individual cells is fundamental to understanding
complex biological systems. We describe a droplet-based system that enables 3′ mRNA …

Several recent studies in a number of model systems including zebrafish, Arabidopsis, and
mouse have revealed phenotypic differences between knockouts (ie, mutants) and …

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting
from knockouts of these genes in mice have provided tremendous insight into gene function …

Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …

The absence of cancer-restricted surface markers is a major impediment to antigen-specific
immunotherapy using chimeric antigen receptor (CAR) T cells. For example, targeting the …

INTRODUCTION Large-scale genetic studies of integrated health care populations, with
phenotypic data captured natively in the documentation of clinical care, have the potential to …