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 …

Acetylation is one of the major post-translational protein modifications in the cell, with
manifold effects on the protein level as well as on the metabolome level. The acetyl group …

Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed …

Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …

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