Prioritizing missense variants for further experimental investigation is a key challenge in
current sequencing studies for exploring complex and Mendelian diseases. A large number …

Interpretation of the colossal number of genetic variants identified from sequencing
applications is one of the major bottlenecks in clinical genetics, with the inference of the …

Notch signaling regulates a vast array of crucial developmental processes. It is therefore not
surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of …

Background The frequency of a variant in the general population is a key criterion used in
the clinical interpretation of sequence variants. With certain exceptions, such as founder …

Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis
enzymes. To date, all UK cases have been one of the three autosomal dominant forms …

Less than half of patients with suspected genetic disease receive a molecular diagnosis. We
have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical …

Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of
the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in …

Background Hereditary predisposition is rarely suspected for childhood acute lymphoblastic
leukaemia (ALL). Recent reports of germline ETV6 variations associated with substantial …

Recent advances in the development of sequencing technologies provide researchers with
unprecedented possibilities for genetic analyses. In this review, we will discuss the history of …

For next‐generation sequencing technologies, sufficient base‐pair coverage is the foremost
requirement for the reliable detection of genomic variants. We investigated whether whole …