Article
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
American journal of medical genetics. Part A - 1 Jun 2022
Wen Jiadi, Chai Hongyan, Grommisch Brittany, DiAdamo Autumn, Dykas Daniel, Ma Deqiong, Popa Andreea, Zhao Chen, Spencer-Manzon Michele, Jiang Yong-Hui, McGrath James, Li Peining, Bale Allen, Zhang Hui
Abstract excerpt
Chromosomal microarray analysis using single nucleotide polymorphism probes can detect regions of homozygosity (ROH). This confers a potential utility in revealing autosomal recessive (AR) diseases and uniparental disomy (UPD). Results of genetic testing among pediatric patients from 2015 to 2019 were evaluated. Diagnostic findings with detected ROH from large consecutive case series in the literature were...
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