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

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 regions w...

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Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Prasad, Aparna, Sdano, Matthew A., Vanzo, Rena J., Mowery-Rushton, Patricia A., Serrano, Moises A., Hensel, Charles H., Wassman, E. Robert
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2018
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5859484/
https://ncbi.nlm.nih.gov/pubmed/29554876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0555-3
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