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 genetic and genomic medicine Title + abstract only

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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 within our ES analysis process for the Deciphering Developmental Disorders in Afri...

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

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