The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Charlie F Rowlands Alice Garrett Sophie AllenMiranda DurkieGeorge Joseph BurghelRachel RobinsonAlison CallawayJoanne FieldBethan FrugtnietSheila Palmer-SmithJonathan GrantJudith PaganTrudi McDevittTerri P McVeighHelen HansonNicola WhiffinMichael JonesCatherine Huntleynull null

Published in: Journal of medical genetics (2024)

PS4-LRCalc enables flexible evidence quantitation on a continuous scale for observed case-control data. The converted LR is amenable to incorporation into the now widely used 2018 updated Bayesian ACMG/AMP framework.

Keyphrases

case control
electronic health record
big data
machine learning
mass spectrometry
ms ms
deep learning
protein kinase
liquid chromatography tandem mass spectrometry
liquid chromatography
data analysis