Background Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known ...

Background Pathogenicity predictors are integral to genomic variant interpretation but, despite their widespread usage, an independent validation of performance using a clinically relevant dataset has ...

4 Division of Nephrology and Dialysis, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome, Italy 5 Molecular Medicine Unit, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome ...

4 Department of Pulmonology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 5 Department of Otolaryngology, Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, ...