Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

With the introduction of Next Generation Sequencing (NGS) techniques increasing numbers
of disease-associated variants are being identified. This ongoing progress might lead to …

Background Exome sequencing (ES) is becoming more widely available in prenatal
diagnosis. However, data on its clinical utility and integration into clinical management …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic …

Abstract Purpose The NIH Undiagnosed Diseases Network (UDN) evaluates participants
with disorders that have defied diagnosis, applying personalized clinical and genomic …

Objective To evaluate the utility of prenatal exome sequencing (pES) in fetuses with central
nervous system (CNS) abnormalities. Methods This was a retrospective cohort study of …

Background Clinical exome sequencing typically achieves diagnostic yields of 30%–57.5%
in individuals with monogenic rare diseases. Undiagnosed diseases programmes …

Rare diseases (RDs) are a group of lifetime incapacitating or fatal diseases affecting nearly
3.5–5.9% of the global population, reaching 263–446 million individuals. RDs possess a …

KCTD7 is a member of the potassium channel tetramerization domain-containing protein
family and has been associated with progressive myoclonic epilepsy (PME), characterized …

Until now, rare disease studies have mainly been carried out by detecting simple variants
such as single nucleotide substitutions and short insertions and deletions in protein-coding …