Despite significant progress in unraveling the genetic causes of neurodevelopmental
disorders (NDDs), a substantial proportion of individuals with NDDs remain without a …

Over the past several years, more focus has been placed on dissecting the genetic basis of
complex diseases and traits through genome-wide association studies. In contrast …

Exome sequencing—the targeted sequencing of the subset of the human genome that is
protein coding—is a powerful and cost-effective new tool for dissecting the genetic basis of …

Many submicroscopic genomic rearrangements have been robustly associated with well-
defined clinical syndromes. Three papers in this issue once again illustrate how underlying …

We report the development and validation of experimental methods, study designs, and
analysis software for pooling-based genomewide association (GWA) studies that use high …

Disorders that share genetic risk factors often are placed in closely related diagnostic
categories and treated similarly. Until recently, evidence for shared genetic etiology derived …

Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …

Despite release of the GRCh38 human reference genome more than seven years ago,
GRCh37 remains more widely used by most research and clinical laboratories. To date, no …

Genome-wide association studies (GWASs) are an optimal design for discovery of disease
risk loci for diseases whose underlying genetic architecture includes many common causal …

While genes with an excess of de novo mutations (DNMs) have been identified in children
with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the …