Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification.

Matthew J O'Neill Chai-Ann NgTakanori AizawaLuca SalaSahej BainsAnnika WinboRizwan UllahQianyi ShenChek-Ying TanKrystian KozekLoren R VanagsDevyn W MitchellAlex ShenYuko WadaAsami KashiwaLia CrottiFederica DagradiGiulia MusuCarla SpazzoliniRaquel NevesJ Martijn BosJohn R GiudicessiXavier BledsoeEric R GamazonMegan LancasterAndrew M GlazerBjorn C KnollmannDan M RodenJochen WeileFrederick RothJoe-Elie SalemNikki EarleRachael StilesTaylor AgeeChristopher N JohnsonMinoru HorieJonathan SkinnerMichael J AckermanPeter J SchwartzSeiko Ohno Jamie I Vandenberg Brett M Kroncke

Published in: medRxiv : the preprint server for health sciences (2024)

missense variants.

Keyphrases

deep learning
machine learning
high throughput
single cell
copy number
left ventricular
intellectual disability
gene expression
genome wide