Article

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders – the DDD-Africa study

2026-02-07

Abstract excerpt

Copy number variants (CNV) contribute significantly to the pathogenic variation associated with developmental disorders. CNV detection is often not included in standard exome sequencing (ES) analysis. Complementary methods such as chromosomal microarray are typically offered in diagnostic laboratories to diagnose pathogenic CNV. In this study, we aimed to develop an optimal approach for incorporating CNV detection...

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Literature Corpus work: 92008f34-c7ba-5e5c-8fc5-70dc5a1f3fbc
DOI: 10.64898/2026.02.06.26345639

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