Evidence map›Paper›PMID 42732270›Full record

ArticleHuman mutation2026

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

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

Abstract read
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In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Li-Li ZhangEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0009-0009-5463-8708
Zi-Jia ZhaoEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.
Kai-Xin ChenEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.
Yu-Qiao JuEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.
Feng-Juan GaoEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0000-0002-2799-3554
Yuan ZongEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0009-0000-4374-5190
Qing ChangEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0000-0003-3733-8980
Xin HuangEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0000-0001-7988-3202
Ting ZhangEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0000-0003-4488-3442
Ge-Zhi XuEye Institute and Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Shanghai, China, fudan.edu.cn.ORCID https://orcid.org/0000-0001-8441-9690

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 validation, and applied it in familial exudative vitreoretinopathy (FEVR). Using NGS, 97 variants linked to FEVR were identified, including 91 SNVs and 6 CNVs. Of the CNVs, 66.67% (4/6) were validated both by quantitative PCR and tecPCR, yielding a positive predictive value of 100% (95% confidence intervals: 39.8%-100%) and negative predictive value of 100% (95% confidence intervals: 15.8%-100%) for tecPCR in this pilot validation. The validated FEVR genetic test showed a positivity rate of 53.07% (95/179). Moreover, the demographic and ocular features of the FEVR patients with CNVs were comparable to those with SNVs. This study broadens the mutation spectrum of FEVR and demonstrates that tecPCR provides exceptional specificity and sensitivity, making it a promising tool for genetic diagnostics.

Indexed as

DNA Copy Number VariationsRetinal DiseasesChildChild, PreschoolFamilial Exudative VitreoretinopathiesFemaleGenetic Predisposition to DiseaseGenetic TestingHigh-Throughput Nucleotide SequencingHumansInfantMaleMultiplex Polymerase Chain ReactionMutationPolymerase Chain ReactionPolymorphism, Single Nucleotidecopy number variationfamilial exudative vitreoretinopathynext-generation sequencequantitative PCR analysistarget enrichment

Identifiers

PMID42732270
PMCPMC13570494

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.