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SNV/Indel and CNV Analysis in Trio-WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost-Effectiveness.

Clinical genetics - 1 Apr 2025

Qian Guanhua, Yang Nanyan, Deng Fang, Zhang Mingze, Pan Xin, Tan Bo, Liu Li, Zhang Xu, Yao Hong, Dong Xiaojing

Abstract excerpt

Intellectual and developmental disabilities (IDD) are clinically and genetically heterogeneous disorders of global concern. While whole exome sequencing (WES) is used to identify single nucleotide variants (SNVs) and small insertions/deletions (Indels) in IDD patients, its detection rate is limited. This study evaluated the value of integrating copy number variation (CNV) analysis into traditional SNV/Indel...

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PMID: 39829082
DOI: 10.1111/cge.14677

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