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Article

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.

BMC medical genomics - 19 May 2020

Wang Jun, Wang Yan, Wang Liwen, Chen Wang Yang, Sheng Min

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a heterogeneous neurodevelopmental disorder with a complex genetic underpinning in its etiology. Chromosome microarray (CMA) is recommended as the first-tier diagnostic test for ID due to high detection rate of copy number variation (CNV). METHODS: To identify an appropriate clinical detection scheme for ID in Han Chinese patients, whole genome low-coverage sequencing...

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PMID: 32429945
DOI: 10.1186/s12920-020-0726-x
PMCID: PMC7236547

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