Article

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

2023-08-25

Abstract excerpt

<h4>Purpose</h4> Structural variants such as multi-exon 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 to genome-wide low-resolution and exon-resolution chromosomal microarrays (CMA), and to characterise the properties of de...

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Literature Corpus work: d4406820-395a-5835-a1c2-a8cd1ab61bd1
DOI: 10.1101/2023.08.23.23294463

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