Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2 -LQTS Risk Stratification.
Matthew J O'NeillChai-Ann NgTakanori AizawaLuca SalaSahej BainsIsabelle DenjoyAnnika WinboRizwan UllahQianyi ShenChek-Ying TanKrystian KozekLoren R VanagsDevyn W MitchellAlex ShenYuko WadaAsami KashiwaLia CrottiFederica DagradiGiulia MusuCarla SpazzoliniRaquel NevesJ Martijn BosJohn R GiudicessiXavier BledsoeMegan LancasterAndrew M GlazerDan M RodenAntoine LeenhardtJoe-Elie SalemNikki EarleRachael StilesTaylor AgeeChristopher N JohnsonMinoru HorieJonathan SkinnerFabrice ExtramianaMichael J AckermanPeter J SchwartzSeiko OhnoJamie I VandenbergBrett M KronckePublished in: medRxiv : the preprint server for health sciences (2024)
We show that high-throughput functional data, and other variant-specific features, meaningfully contribute to both diagnosis and prognosis of a clinically actionable monogenic disease.