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

Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …

Interactions between biomolecules underlie all cellular processes and ultimately control cell
fate. Perturbation of native interactions through mutation, changes in expression levels or …

The characterization of mutational processes that generate sequence diversity in the human
genome is of paramount importance both to medical genetics, and to evolutionary studies …

Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …

Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …