Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

Personalized genome sequencing has revealed millions of genetic differences between
individuals, but our understanding of their clinical relevance remains largely incomplete. To …

Deep catalogs of genetic variation from thousands of humans enable the detection of
intraspecies constraint by identifying coding regions with a scarcity of variation. While …

Association studies provide genome-wide information about the genetic basis of complex
disease, but medical research has focused primarily on protein-coding variants, owing to the …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

There are thousands of known associations between genetic variants and complex human
phenotypes, and the rate of novel discoveries is rapidly increasing. Translating those …

The function of human regulatory regions depends exquisitely on their local genomic
environment and on cellular context, complicating experimental analysis of common disease …

To the Editor: Identifying disease-causing genetic variants in individual human genomes is a
major challenge, even in proteincoding exons (the 'exome'). Analysis of nucleotide-level …

Several recent papers have used summary results from genome-wide association studies to
characterize genetic overlap between human complex traits and common diseases. The …