{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T11:05:01Z","timestamp":1776855901046,"version":"3.51.2"},"reference-count":71,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T00:00:00Z","timestamp":1703808000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Eone-Diagnomics Genome Center Inc."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Copy number variation (CNV) is a primary source of structural variation in the human genome, leading to several disorders. Therefore, analyzing neonatal CNVs is crucial for managing CNV-related chromosomal disabilities. However, genomic waves can hinder accurate CNV analysis. To mitigate the influences of the waves, we adopted a machine learning approach and developed a new method that uses a modified log R ratio instead of the commonly used log R ratio. Validation results using samples with known CNVs demonstrated the superior performance of our method. We analyzed a total of 16,046 Korean newborn samples using the new method and identified CNVs related to 39 genetic disorders were identified in 342 cases. The most frequently detected CNV-related disorder was Joubert syndrome 4. The accuracy of our method was further confirmed by analyzing a subset of the detected results using NGS and comparing them with our results. The utilization of a genome-wide single nucleotide polymorphism array with wave offset was shown to be a powerful method for identifying CNVs in neonatal cases. The accurate screening and the ability to identify various disease susceptibilities offered by our new method could facilitate the identification of CNV-associated chromosomal disease etiologies.<\/jats:p>","DOI":"10.3390\/diagnostics14010084","type":"journal-article","created":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T09:15:11Z","timestamp":1703841311000},"page":"84","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach"],"prefix":"10.3390","volume":"14","author":[{"given":"Chul Jun","family":"Goh","sequence":"first","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7005-6999","authenticated-orcid":false,"given":"Hyuk-Jung","family":"Kwon","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"},{"name":"Department of Computer Science and Engineering, Incheon National University (INU), Incheon 22012, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoonhee","family":"Kim","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seunghee","family":"Jung","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwoo","family":"Park","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaac Kise","family":"Lee","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"},{"name":"Department of Computer Science and Engineering, Incheon National University (INU), Incheon 22012, Republic of Korea"},{"name":"NGENI Foundation, San Diego, CA 92127, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo-Ram","family":"Park","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myeong-Ji","family":"Kim","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Jeong","family":"Kim","sequence":"additional","affiliation":[{"name":"Diagnomics, Inc., 5795 Kearny Villa Rd., San Diego, CA 92123, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Seob","family":"Lee","sequence":"additional","affiliation":[{"name":"Eone-Diagnomics Genome Center, Inc., 143, Gaetbeol-ro, Yeonsu-gu, Incheon 21999, Republic of Korea"},{"name":"Diagnomics, Inc., 5795 Kearny Villa Rd., San Diego, CA 92123, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/nrg1767","article-title":"Structural variation in the human genome","volume":"7","author":"Feuk","year":"2006","journal-title":"Nat. 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