High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Ayesha MuhammadMaria E CalandranisBian LiTao YangDaniel J BlackwellM Lorena HarveyJeremy E SmithZerubabell A DanielAshli E ChewJohn A CapraKenneth A MatreyekDouglas M FowlerDan M RodenAndrew M Glazer

Published in: Genome medicine (2024)

channel biology and help reclassify variants of uncertain significance.

Keyphrases

copy number
high throughput
genome wide
dna methylation
single cell
high density
gene expression
mass spectrometry