Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

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 application of massively parallel sequencing technology to the field of skeletal disorders
has boosted the discovery of the underlying genetic defect for many of these diseases. It has …

Background Diagnosing genetic disorders requires extensive manual curation and
interpretation of candidate variants, a labor-intensive task even for trained geneticists …

Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …

Technological advances have enabled the use of DNA sequencing as a flexible tool to
characterize genetic variation and to measure the activity of diverse cellular phenomena …

Recent developments in sequencing techniques have enabled rapid and high-throughput
generation of sequence data, democratizing the ability to compile information on large …

Solute carrier (SLC) transporters—a family of more than 300 membrane-bound proteins that
facilitate the transport of a wide array of substrates across biological membranes—have …

Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding
genome function. Approaches based on next-generation sequencing applied at scale have …

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 …