{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T12:10:27Z","timestamp":1789215027077,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"vor","delay-in-days":254,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171078"],"award-info":[{"award-number":["82171078"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NSFC 82201204"],"award-info":[{"award-number":["NSFC 82201204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>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\u2010generation 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%\u2013100%) and negative predictive value of 100% (95% confidence intervals: 15.8%\u2013100%) 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.<\/jats:p>","DOI":"10.1155\/humu\/9556416","type":"journal-article","created":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T11:41:25Z","timestamp":1789213285000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5463-8708","authenticated-orcid":false,"given":"Li-li","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi-jia","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai-xin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-qiao","family":"Ju","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2799-3554","authenticated-orcid":false,"given":"Feng-juan","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4374-5190","authenticated-orcid":false,"given":"Yuan","family":"Zong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3733-8980","authenticated-orcid":false,"given":"Qing","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7988-3202","authenticated-orcid":false,"given":"Xin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4488-3442","authenticated-orcid":false,"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8441-9690","authenticated-orcid":false,"given":"Ge-zhi","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,12]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-01059-x"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.17-23541"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2014.70"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-016-0336-6"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2024.01.029"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-024-00589-6"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s43657-023-00130-0"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.2147\/opth.S379557"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091427"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0078496"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1363"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0305812"},{"key":"e_1_2_12_13_2","first-page":"632","article-title":"Five Novel Copy Number Variations Detected in Patients With Familial Exudative Vitreoretinopathy","volume":"27","author":"Luo J.","year":"2021","journal-title":"Molecular Vision"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12070980"},{"key":"e_1_2_12_15_2","first-page":"29","article-title":"Ocular Manifestations of Chinese Patients With Copy Number Variants in the NDP Gene","volume":"28","author":"Huang L.","year":"2022","journal-title":"Molecular Vision"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1778"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10384-014-0334-4"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2021-320084"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.18240\/ijo.2023.12.06"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-20585"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacbts.2020.05.013"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/9556416","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/humu\/9556416","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/9556416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T11:41:27Z","timestamp":1789213287000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/humu\/9556416"}},"subtitle":[],"editor":[{"given":"Baisakhi","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/humu\/9556416"],"URL":"https:\/\/doi.org\/10.1155\/humu\/9556416","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-04-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9556416"}}