Litcius/Paper detail

A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2

Chai‐Ann Ng, Rizwan Ullah, Jessica Farr, Adam P. Hill, Krystian A. Kozek, Loren Vanags, Devyn Mitchell, Brett M. Kroncke, Jamie I. Vandenberg

2022The American Journal of Human Genetics31 citationsDOIOpen Access PDF

Topics & Concepts

Massive parallel sequencingHotspot (geology)ExonBiologyMassively parallelGeneticsSingle-nucleotide polymorphismComputational biologyGeneGenomeGenotypeParallel computingComputer scienceGeologyGeophysicsCardiac electrophysiology and arrhythmiasGenomics and Rare DiseasesCardiomyopathy and Myosin Studies