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

1 Jan 2024

Abstract excerpt

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...

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PMID: 39669630
DOI: 10.1016/j.gimo.2024.101818

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