Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.

ABSTRACT:

Background

Sequencing Mendelian arrhythmia genes in individuals without an indication for arrhythmia genetic testing can identify carriers of pathogenic or likely pathogenic (P/LP) variants. However, the extent to which these variants are associated with clinically meaningful phenotypes before or after return of variant results is unclear. In addition, the majority of discovered variants are currently classified as variants of uncertain significance, limiting clinical actionability.

Methods

The eMERGE-III study (Electronic Medical Records and Genomics Phase III) is a multicenter prospective cohort that included 21 846 participants without previous indication for cardiac genetic testing. Participants were sequenced for 109 Mendelian disease genes, including 10 linked to arrhy

SUBMITTER: Glazer AM 

PROVIDER: S-EPMC8940719 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature