Detecting Regions of Homozygosity Improves the Diagnosis of Pathogenic Variants and Uniparental Disomy in Pediatric Patients

Jiadi Wen,Hongyan Chai,Brittany Grommisch,Autumn DiAdamo,Daniel Dykas,Deqiong Ma,Andreea Popa,Chen Zhao,Michele Spencer-Manzon,Yong-Hui Jiang,James McGrath,Peining Li,Allen Bale,Hui Zhang

American Journal of Medical Genetics Part A（2022）

Cited 1|Views27

Key words

array comparative genomic hybridization (aCGH),autosomal recessive (AR) disease,pathogenic variant,regions of homozygosity (ROH),uniparental disomy (UPD),whole exome sequencing (WES)

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