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

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

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...

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Bibliographic Details
Main Authors: Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Medical Genetics
Subjects:
Homozygosity
Exome sequencing
Diagnostics
Neurodevelopmental disorders
Pathogenic variants
Consanguineous
Online Access:http://link.springer.com/article/10.1186/s12881-018-0555-3

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http://link.springer.com/article/10.1186/s12881-018-0555-3

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