Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

ABSTRACT:

Purpose

We evaluated genome sequencing (GS) as an alternative to multigene panel sequencing (PS) for genetic testing in dilated cardiomyopathy (DCM).

Methods

Forty-two patients with familial DCM underwent PS and GS, and detection rates of rare single-nucleotide variants and small insertions/deletions in panel genes were compared. Loss-of-function variants in 406 cardiac-enriched genes were evaluated, and an assessment of structural variation was performed.

Results

GS provided broader and more uniform coverage than PS, with high concordance for rare variant detection in panel genes. GS identified all PS-identified pathogenic or likely pathogenic variants as well as two additional likely pathogenic variants: one was missed by PS due to low coverage, the other was a know

SUBMITTER: Minoche AE 

PROVIDER: S-EPMC7271716 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature