The genetic architecture of long QT syndrome: a critical reappraisal

JR Giudicessi, AAM Wilde, MJ Ackerman - Trends in cardiovascular …, 2018 - Elsevier
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 …
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