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Article

A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.

Human mutation - 1 Jan 2026

Zhang Li-Li, Zhao Zi-Jia, Chen Kai-Xin, Ju Yu-Qiao, Gao Feng-Juan, Zong Yuan, Chang Qing, Huang Xin, Zhang Ting, Xu Ge-Zhi

Abstract excerpt

Inherited diseases have a strong genetic basis, with copy number variants (CNVs) playing a crucial role in their pathogenesis. However, the detection and validation of CNVs remain challenging. In this study, we introduce target enrichment polymerase chain reaction (tecPCR), a novel technique that integrates multiplex polymerase chain reaction (PCR) with next-generation sequencing (NGS) for enhanced CNV...

Read the complete abstract on PubMed

Topics

Humans
DNA Copy Number Variations
Female
Familial Exudative Vitreoretinopathies
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Mutation

Multiplex Polymerase Chain Reaction

Genetic Testing

Child

Retinal Diseases

Polymerase Chain Reaction

Child, Preschool

Genetic Predisposition to Disease

Infant

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 42732270
DOI: 10.1155/humu/9556416
PMCID: PMC13570494

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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