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Article

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.

Scientific reports - 11 Nov 2024

Li Chengyan, Wang You, Zeng Cizheng, Huang Binglong, Chen Yinhui, Xue Chupeng, Liu Ling, Rong Shiwen, Lin Yongwen

Abstract excerpt

Understanding the genetic basis of developmental delay (DD) and intellectual disability (ID) remains a considerable clinical challenge. This study evaluated the clinical application of trio whole exome sequencing (WES) in children diagnosed with DD/ID. The study comprised 173 children with unexplained DD/ID. The participants underwent trio-WES and their demographic, clinical, and genetic characteristics were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39528574
DOI: 10.1038/s41598-024-79431-x
PMCID: PMC11555314

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