Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that are thought to underlie, or …

The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …

Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …

Human genetic variation in more than 2,500 individuals The 1000 Genomes Project has
sought to comprehensively catalogue human genetic variation across populations, providing …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …

The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …

Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive collection of
germline mutations in nuclear genes that underlie, or are associated with, human inherited …