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

• Prif Awduron: Jun Wang (Awdur), Yan Wang (Awdur), Liwen Wang (Awdur), Wang Yang Chen (Awdur), Min Sheng (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2020-05-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

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...