Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.

Jennifer J JohnstonRobert T DirksenThierry GirardStephen G GonsalvesPhilip M HopkinsSheila RiaziLouis A SaddicNyamkhishig SambuughinRicha SaxenaKathryn StowellJames WeberHenry RosenbergLeslie G Biesecker

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Curation of these variants will facilitate classification of RYR1/MH genomic testing results, which is especially important for secondary findings analyses. Our approach to quantitatively calibrating criteria is generalizable to other variant curation expert panels.

Keyphrases

clinical practice
copy number
machine learning
deep learning
escherichia coli
dna methylation
genome wide
cystic fibrosis