Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

• Main Authors: Aparna Prasad (Author), Matthew A. Sdano (Author), Rena J. Vanzo (Author), Patricia A. Mowery-Rushton (Author), Moises A. Serrano (Author), Charles H. Hensel (Author), E. Robert Wassman (Author)
• Format: Book
• Published: BMC, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous r...