High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

ABSTRACT:

Background

The explosive growth in known human gene variation presents enormous challenges to current approaches for variant classification that have implications for diagnosis and treatment of many genetic diseases. For disorders caused by mutations in cardiac ion channels as in congenital arrhythmia syndromes, in vitro electrophysiological evidence has high value in discriminating pathogenic from benign variants, but these data are often lacking because assays are cost, time, and labor intensive.

Methods

We implemented a strategy for performing high-throughput functional evaluations of ion channel variants that repurposed an automated electrophysiological recording platform developed previously for drug discovery.

Results

We demonstrated the success of this approach

SUBMITTER: Vanoye CG 

PROVIDER: S-EPMC6309341 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature