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Article

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases

9 Jul 2024

Abstract excerpt

BACKGROUND: Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinical exome sequencing (CES) in detecting CNVs, particularly small ones, remains incompletely understood. We aimed to evaluate the detection of both large and small CNVs using...

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Share to Genomic variations and chromosomal abnormalities
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Share to Prenatal Screening and Diagnostics

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PMID: 38982507
DOI: 10.1186/s12967-024-05468-1

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