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Article

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

Human molecular genetics - 15 May 2017

Zhang Ling, Wang Jingmin, Zhang Cheng, Li Dongxiao, Carvalho Claudia M B, Ji Haoran, Xiao Jianqiu, Wu Ye, Zhou Weichen, Wang Hongyan, Jin Li, Luo Yang, Wu Xiru, Lupski James R, Zhang Feng, Jiang Yuwu

Abstract excerpt

Genomic disorders are the clinical conditions manifested by submicroscopic genomic rearrangements including copy number variants (CNVs). The CNVs can be identified by array-based comparative genomic hybridization (aCGH), the most commonly used technology for molecular diagnostics of genomic disorders. However, clinical aCGH only informs CNVs in the probe-interrogated regions. Neither orientational information nor...

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Identifiers

PMID: 28334874
DOI: 10.1093/hmg/ddx102
PMCID: PMC6075079

Genes

PLP1

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