{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T03:58:57Z","timestamp":1773287937168,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U21A20346"],"award-info":[{"award-number":["U21A20346"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genomics"],"published-print":{"date-parts":[[2026,3]]},"DOI":"10.1016\/j.ygeno.2026.111196","type":"journal-article","created":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T08:08:41Z","timestamp":1767859721000},"page":"111196","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of CNV detection tools for prenatal diagnosis using amniotic fluid clinical whole-exome sequencing data"],"prefix":"10.1016","volume":"118","author":[{"given":"Qi","family":"Guo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Gui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijuan","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.ygeno.2026.111196_bb0005","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1101\/gr.3677206","article-title":"Copy number variation: new insights in genome diversity","volume":"16","author":"Freeman","year":"2006","journal-title":"Genome Res."},{"issue":"7571","key":"10.1016\/j.ygeno.2026.111196_bb0010","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human genomes","volume":"526","author":"Sudmant","year":"2015","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ygeno.2026.111196_bb0015","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nrg3871","article-title":"A copy number variation map of the human genome","volume":"16","author":"Zarrei","year":"2015","journal-title":"Nat. Rev. Genet."},{"issue":"3","key":"10.1016\/j.ygeno.2026.111196_bb0020","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2012.08.003","article-title":"Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease","volume":"91","author":"Soemedi","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ygeno.2026.111196_bb0025","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1038\/ng.3092","article-title":"Refining analyses of copy number variation identifies specific genes associated with developmental delay","volume":"46","author":"Coe","year":"2014","journal-title":"Nat. Genet."},{"issue":"5813","key":"10.1016\/j.ygeno.2026.111196_bb0030","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1126\/science.1136678","article-title":"Relative impact of nucleotide and copy number variation on gene expression phenotypes","volume":"315","author":"Stranger","year":"2007","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.ygeno.2026.111196_bb0035","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1056\/NEJMc1509813","article-title":"Copy-number variation and false positive prenatal screening results","volume":"375","author":"Chudova","year":"2016","journal-title":"N. Engl. J. Med."},{"issue":"10197","key":"10.1016\/j.ygeno.2026.111196_bb0040","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/S0140-6736(19)31274-7","article-title":"Genomic medicine for undiagnosed diseases","volume":"394","author":"Wise","year":"2019","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.ygeno.2026.111196_bb0045","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1111\/1471-0528.16785","article-title":"Prenatal diagnosis and pre-implantation genetic diagnosis for cancer susceptibility conditions","volume":"129","author":"Kulkarni","year":"2022","journal-title":"BJOG"},{"issue":"11","key":"10.1016\/j.ygeno.2026.111196_bb0050","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1038\/ejhg.2015.57","article-title":"Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening","volume":"23","author":"Dondorp","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"issue":"23","key":"10.1016\/j.ygeno.2026.111196_bb0055","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.ygeno.2026.111196_bb0060","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ajog.2016.02.030","article-title":"Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants","volume":"215","author":"Lefkowitz","year":"2016","journal-title":"Am. J. Obstet. Gynecol."},{"key":"10.1016\/j.ygeno.2026.111196_bb0065","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1186\/1471-2105-10-80","article-title":"CNV-seq, a new method to detect copy number variation using high-throughput sequencing","volume":"10","author":"Xie","year":"2009","journal-title":"BMC Bioinf."},{"issue":"1","key":"10.1016\/j.ygeno.2026.111196_bb0070","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ogc.2017.10.003","article-title":"Whole exome sequencing: applications in prenatal genetics","volume":"45","author":"Jelin","year":"2018","journal-title":"Obstet. Gynecol. Clin. N. Am."},{"issue":"11","key":"10.1016\/j.ygeno.2026.111196_bb0075","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1038\/gim.2018.30","article-title":"Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management","volume":"20","author":"Chandler","year":"2018","journal-title":"Genet. Med."},{"issue":"1","key":"10.1016\/j.ygeno.2026.111196_bb0080","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1002\/pd.5102","article-title":"Promises, pitfalls and practicalities of prenatal whole exome sequencing","volume":"38","author":"Best","year":"2018","journal-title":"Prenat. Diagn."},{"issue":"10173","key":"10.1016\/j.ygeno.2026.111196_bb0085","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.ygeno.2026.111196_bb0090","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.ophtha.2016.01.009","article-title":"Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease","volume":"123","author":"Ellingford","year":"2016","journal-title":"Ophthalmology"},{"issue":"7509","key":"10.1016\/j.ygeno.2026.111196_bb0095","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","article-title":"Genome sequencing identifies major causes of severe intellectual disability","volume":"511","author":"Gilissen","year":"2014","journal-title":"Nature"},{"issue":"21","key":"10.1016\/j.ygeno.2026.111196_bb0100","doi-asserted-by":"crossref","first-page":"2747","DOI":"10.1093\/bioinformatics\/bts526","article-title":"A robust model for read count data in exome sequencing experiments and implications for copy number variant calling","volume":"28","author":"Plagnol","year":"2012","journal-title":"Bioinformatics"},{"issue":"1","key":"10.1016\/j.ygeno.2026.111196_bb0105","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1186\/s13059-018-1578-y","article-title":"CODEX2: full-spectrum copy number variation detection by high-throughput DNA sequencing","volume":"19","author":"Jiang","year":"2018","journal-title":"Genome Biol."},{"issue":"4","key":"10.1016\/j.ygeno.2026.111196_bb0110","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1004873","article-title":"CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing","volume":"12","author":"Talevich","year":"2016","journal-title":"PLoS Comput. Biol."},{"issue":"5","key":"10.1016\/j.ygeno.2026.111196_bb0115","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1002\/humu.22969","article-title":"CoNVaDING: single exon variation detection in targeted NGS data","volume":"37","author":"Johansson","year":"2016","journal-title":"Hum. Mutat."},{"issue":"9","key":"10.1016\/j.ygeno.2026.111196_bb0120","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gks003","article-title":"Cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate","volume":"40","author":"Klambauer","year":"2012","journal-title":"Nucleic Acids Res."},{"issue":"3","key":"10.1016\/j.ygeno.2026.111196_bb0125","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1093\/bioinformatics\/btr670","article-title":"Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data","volume":"28","author":"Boeva","year":"2012","journal-title":"Bioinformatics"},{"issue":"9","key":"10.1016\/j.ygeno.2026.111196_bb0130","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1093\/bioinformatics\/btac137","article-title":"BWA-MEME: BWA-MEM emulated with a machine learning approach","volume":"38","author":"Jung","year":"2022","journal-title":"Bioinformatics"},{"issue":"12","key":"10.1016\/j.ygeno.2026.111196_bb0135","doi-asserted-by":"crossref","DOI":"10.3390\/genes11121397","article-title":"Simultaneous detection of CNVs and SNVs improves the diagnostic yield of Fetuses with ultrasound anomalies and Normal karyotypes","volume":"11","author":"Qi","year":"2020","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.ygeno.2026.111196_bb0140","series-title":"Proceedings of the 9th Python in Science Conference","doi-asserted-by":"crossref","DOI":"10.25080\/Majora-92bf1922-00a","article-title":"Data structures for statistical computing in Python","author":"McKinney","year":"2010"},{"issue":"7825","key":"10.1016\/j.ygeno.2026.111196_bb0145","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/s41586-020-2649-2","article-title":"Array programming with NumPy","volume":"585","author":"Harris","year":"2020","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.ygeno.2026.111196_bb0150","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/s41592-019-0686-2","article-title":"SciPy 1.0: fundamental algorithms for scientific computing in Python","volume":"17","author":"Virtanen","year":"2020","journal-title":"Nat. Methods"}],"container-title":["Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754326000042?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0888754326000042?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T12:20:10Z","timestamp":1773231610000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0888754326000042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":30,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["S0888754326000042"],"URL":"https:\/\/doi.org\/10.1016\/j.ygeno.2026.111196","relation":{},"ISSN":["0888-7543"],"issn-type":[{"value":"0888-7543","type":"print"}],"subject":[],"published":{"date-parts":[[2026,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluation of CNV detection tools for prenatal diagnosis using amniotic fluid clinical whole-exome sequencing data","name":"articletitle","label":"Article Title"},{"value":"Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ygeno.2026.111196","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"111196"}}