Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …

Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Genome-wide association studies have successfully discovered thousands of common
variants associated with human diseases and traits, but the landscape of rare variations in …

Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …

Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders …

The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically …

Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …