Autor: Nadja Louw
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Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DDD-Africa study
European Journal of Human Genetics, Published online: 09 July 2026; doi:10.1038/s41431-026-02179-7Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders—the DD…
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Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy number variants (CNVs) in coding exonic regions of the genome in a single…