718 citations · 848 across the 2 of their papers we have counts for
3 papers
GREGoR: Accelerating Genomics for Rare Diseases
Moez Dawood, Ben Heavner, Marsha M. Wheeler +31
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to…
Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha +21
Despite advances in clinical genetic testing, including the introduction of exome sequencing (ES), more than 50% of individuals with a suspected Mendelian condition lack a precise…
Variant interpretation using population databases: lessons from gnomAD
Sanna Gudmundsson, Moriel Singer-Berk, Nicholas A. Watts +7
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 variati…