The genetic architecture of long QT syndrome: A critical reappraisal.

ABSTRACT: Collectively, the completion of the Human Genome Project and subsequent development of high-throughput next-generation sequencing methodologies have revolutionized genomic research. However, the rapid sequencing and analysis of thousands upon thousands of human exomes and genomes has taught us that most genes, including those known to cause heritable cardiovascular disorders such as long QT syndrome, harbor an unexpected background rate of rare, and presumably innocuous, non-synonymous genetic variation. In this Review, we aim to reappraise the genetic architecture underlying both the acquired and congenital forms of long QT syndrome by examining how the clinical phenotype associated with and background genetic variation in long QT syndrome-susceptibility genes impacts the clinical validit

SUBMITTER: Giudicessi JR 

PROVIDER: S-EPMC6590899 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature