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

• Główni autorzy: Jun Wang (Autor), Yan Wang (Autor), Liwen Wang (Autor), Wang Yang Chen (Autor), Min Sheng (Autor)
• Format: Książka
• Wydane: BMC, 2020-05-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...