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Article

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

BMC medical genetics - 20 Mar 2018

Prasad Aparna, Sdano Matthew A, Vanzo Rena J, Mowery-Rushton Patricia A, Serrano Moises A, Hensel Charles H, Wassman E Robert

Abstract excerpt

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 within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the...

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Source

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Identifiers

PMID: 29554876
DOI: 10.1186/s12881-018-0555-3
PMCID: PMC5859484

Genes

ASMT
GJB2
OTC
TPP1
CADM1
HBB
NDUFV2
PCCB
PNPLA4
SFTPC
SOS1
TYR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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