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

Abstract 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...

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Prif Awduron: Jun Wang (Awdur), Yan Wang (Awdur), Liwen Wang (Awdur), Wang Yang Chen (Awdur), Min Sheng (Awdur)
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Cyhoeddwyd: BMC, 2020-05-01T00:00:00Z.
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