Detection and characterization of copy-number variants from exome sequencing in the DDD study.

ABSTRACT:

Purpose

Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wide low-resolution and exon-resolution chromosomal microarrays (CMAs) and to characterize the properties of de novo CNVs in a large clinical cohort.

Methods

We performed CNV detection using ES of 9859 parent-offspring trios in the Deciphering Developmental Disorders (DDD) study and compared them with CNVs detected from exon-resolution array comparative genomic hybridization in 5197 probands from the DDD study.

Results

Integrating calls from multiple ES-based CNV algorithms us

SUBMITTER: Danecek P 

PROVIDER: S-EPMC11613862 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature