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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Egile Nagusiak:	Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel, E. Robert Wassman
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2018-03-01
Saila:	BMC Medical Genetics
Gaiak:	Homozygosity Exome sequencing Diagnostics Neurodevelopmental disorders Pathogenic variants Consanguineous
Sarrera elektronikoa:	http://link.springer.com/article/10.1186/s12881-018-0555-3
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