{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T11:53:03Z","timestamp":1774180383889,"version":"3.50.1"},"reference-count":34,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["62572389"],"award-info":[{"award-number":["62572389"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Accurate detection of copy number variations (CNVs) from targeted panel sequencing remains challenging due to limited genomic coverage and pronounced sample-specific biases. Existing normalization strategies, including baseline-cohort, matched-control, and single-sample approaches, often struggle to balance noise suppression with adaptability, leading to inconsistent performance across heterogeneous samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We present PScnv, a personalized self-normalizing framework for robust CNV detection from panel sequencing data. PScnv integrates a pre-built panel-of-normals (PoN) with sample-intrinsic stable chromosomes through ridge-regression normalization to generate individualized log2 ratio profiles with reduced systematic variation. CNVs are then identified using a hierarchical multi-phase segmentation pipeline incorporating z-score pre-partitioning, kernel-based correction, and circular binary segmentation. In 139 clinical tumor samples with orthogonal FISH validation at MET, ERBB2, and MTAP, PScnv showed improved accuracy and robustness over existing methods that do not require patient-matched normal samples, provided that a pre-built PoN cohort is available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability<\/jats:title>\n                    <jats:p>Source code is available for academic use at https:\/\/github.com\/lvws\/PScnv.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btag099","type":"journal-article","created":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T12:39:09Z","timestamp":1771936749000},"source":"Crossref","is-referenced-by-count":0,"title":["PScnv: personalized self-normalizing CNV detection with a hierarchical multi-phase framework"],"prefix":"10.1093","volume":"42","author":[{"given":"Xuwen","family":"Wang","sequence":"first","affiliation":[{"name":"The Comprehensive Breast Care Center, the Second Affiliated Hospital of Xi\u2019an Jiaotong University , No. 157 Xiwu Road , Xi\u2019an 710004,","place":["China"]},{"name":"School of Computer Science and Technology, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]},{"name":"Shaanxi Engineering Research Center of Medical and Health Big Data, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhili","family":"Chang","sequence":"additional","affiliation":[{"name":"School of Computer Science and Technology, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]},{"name":"Shaanxi Engineering Research Center of Medical and Health Big Data, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]},{"name":"Nanjing Geneseeq Technology Inc ., Nanjing 211800,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wansheng","family":"Lv","sequence":"additional","affiliation":[{"name":"Nanjing Geneseeq Technology Inc ., Nanjing 211800,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhatov","family":"Akmal","sequence":"additional","affiliation":[{"name":"Faculty of Artificial intelligence and digital technologies , Samarkand State University , Samarkand 140104, Uzbekistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xamidov","family":"Munis","sequence":"additional","affiliation":[{"name":"Faculty of Artificial intelligence and digital technologies , Samarkand State University , Samarkand 140104, Uzbekistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xunbiao","family":"Liu","sequence":"additional","affiliation":[{"name":"Nanjing Geneseeq Technology Inc ., Nanjing 211800,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenjie","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Computer Science and Technology, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]},{"name":"Shaanxi Engineering Research Center of Medical and Health Big Data, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyan","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Computer Science and Technology, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]},{"name":"Shaanxi Engineering Research Center of Medical and Health Big Data, Xi\u2019an Jiaotong University , 28 Xianning West Road , Xi\u2019an 710049,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong","family":"Du","sequence":"additional","affiliation":[{"name":"The Comprehensive Breast Care Center, the Second Affiliated Hospital of Xi\u2019an Jiaotong University , No. 157 Xiwu Road , Xi\u2019an 710004,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuqun","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Comprehensive Breast Care Center, the Second Affiliated Hospital of Xi\u2019an Jiaotong University , No. 157 Xiwu Road , Xi\u2019an 710004,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3862-6557","authenticated-orcid":false,"given":"Jiayin","family":"Wang","sequence":"additional","affiliation":[{"name":"The Comprehensive Breast Care Center, the Second Affiliated Hospital of Xi\u2019an Jiaotong University , No. 157 Xiwu Road , Xi\u2019an 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