{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T08:52:55Z","timestamp":1778057575810,"version":"3.51.4"},"reference-count":48,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T00:00:00Z","timestamp":1488499200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T00:00:00Z","timestamp":1488499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["61472086"],"award-info":[{"award-number":["61472086"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Retinal Research Foundation, Foundation Fighting Blindness","award":["BR-GE-0613-0618-BCM"],"award-info":[{"award-number":["BR-GE-0613-0618-BCM"]}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01EY018571"],"award-info":[{"award-number":["R01EY018571"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01EY020540"],"award-info":[{"award-number":["R01EY020540"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC0902100"],"award-info":[{"award-number":["2016YFC0902100"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Bioinformatics"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s12859-017-1566-3","type":"journal-article","created":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T00:33:19Z","timestamp":1488501199000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data"],"prefix":"10.1186","volume":"18","author":[{"given":"Yong","family":"Chen","sequence":"first","affiliation":[]},{"given":"Li","family":"Zhao","sequence":"additional","affiliation":[]},{"given":"Yi","family":"Wang","sequence":"additional","affiliation":[]},{"given":"Ming","family":"Cao","sequence":"additional","affiliation":[]},{"given":"Violet","family":"Gelowani","sequence":"additional","affiliation":[]},{"given":"Mingchu","family":"Xu","sequence":"additional","affiliation":[]},{"given":"Smriti A.","family":"Agrawal","sequence":"additional","affiliation":[]},{"given":"Yumei","family":"Li","sequence":"additional","affiliation":[]},{"given":"Stephen P.","family":"Daiger","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Gibbs","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5890-0448","authenticated-orcid":false,"given":"Fei","family":"Wang","sequence":"additional","affiliation":[]},{"given":"Rui","family":"Chen","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2017,3,3]]},"reference":[{"issue":"2","key":"1566_CR1","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1007\/s00439-014-1512-7","volume":"134","author":"L Zhao","year":"2015","unstructured":"Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, et al. Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Hum Genet. 2015;134(2):217\u201330.","journal-title":"Hum Genet"},{"issue":"6","key":"1566_CR2","doi-asserted-by":"publisher","first-page":"4158","DOI":"10.1167\/iovs.13-11672","volume":"54","author":"Q Fu","year":"2013","unstructured":"Fu Q, Wang F, Wang H, Xu F, Zaneveld JE, Ren H, Keser V, Lopez I, Tuan HF, Salvo JS, et al. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54(6):4158\u201366.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"3","key":"1566_CR3","doi-asserted-by":"publisher","first-page":"1937","DOI":"10.1167\/iovs.14-16065","volume":"56","author":"J Salvo","year":"2015","unstructured":"Salvo J, Lyubasyuk V, Xu M, Wang H, Wang F, Nguyen D, Wang K, Luo H, Wen C, Shi C, et al. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015;56(3):1937\u201346.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1566_CR4","doi-asserted-by":"publisher","first-page":"21384","DOI":"10.1038\/srep21384","volume":"6","author":"A Tajiguli","year":"2016","unstructured":"Tajiguli A, Xu M, Fu Q, Yiming R, Wang K, Li Y, Eblimit A, Sui R, Chen R, Aisa HA. Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. Sci Rep. 2016;6:21384.","journal-title":"Sci Rep"},{"issue":"2","key":"1566_CR5","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/nrg1767","volume":"7","author":"L Feuk","year":"2006","unstructured":"Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006;7(2):85\u201397.","journal-title":"Nat Rev Genet"},{"issue":"10","key":"1566_CR6","doi-asserted-by":"publisher","first-page":"1166","DOI":"10.1038\/ng.238","volume":"40","author":"SA McCarroll","year":"2008","unstructured":"McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, De Bakker PIW, Maller JB, Kirby A, et al. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet. 2008;40(10):1166\u201374.","journal-title":"Nat Genet"},{"issue":"8","key":"1566_CR7","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1038\/nrg2149","volume":"8","author":"JS Beckmann","year":"2007","unstructured":"Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet. 2007;8(8):639\u201346.","journal-title":"Nat Rev Genet"},{"issue":"5714","key":"1566_CR8","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.1126\/science.1101160","volume":"307","author":"E Gonzalez","year":"2005","unstructured":"Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, et al. The influence of CCL3L1 gene-containing segmental duplications on HIV-1\/AIDS susceptibility. Science. 2005;307(5714):1434\u201340.","journal-title":"Science"},{"issue":"7078","key":"1566_CR9","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1038\/nature04489","volume":"439","author":"TJ Aitman","year":"2006","unstructured":"Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, et al. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature. 2006;439(7078):851\u20135.","journal-title":"Nature"},{"issue":"6","key":"1566_CR10","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1038\/ng2046","volume":"39","author":"M Fanciulli","year":"2007","unstructured":"Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SCL, De Smith A, Blakemore AIF, et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet. 2007;39(6):721\u20133.","journal-title":"Nat Genet"},{"issue":"6","key":"1566_CR11","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1086\/518257","volume":"80","author":"Y Yang","year":"2007","unstructured":"Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu YL, Kitzmiller K, et al. Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): Low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet. 2007;80(6):1037\u201354.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1566_CR12","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1086\/505915","volume":"79","author":"K Fellermann","year":"2006","unstructured":"Fellermann K, Stange DE, Schaeffeler E, Schmalzl H, Wehkamp J, Bevins CL, Reinisch W, Teml A, Schwab M, Lichter P, et al. A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet. 2006;79(3):439\u201348.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1566_CR13","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1038\/ng1985","volume":"39","author":"P Szatmari","year":"2007","unstructured":"Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007;39(3):319\u201328.","journal-title":"Nat Genet"},{"issue":"1","key":"1566_CR14","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ng1718","volume":"38","author":"A Rovelet-Lecrux","year":"2006","unstructured":"Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerriere A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet. 2006;38(1):24\u20136.","journal-title":"Nat Genet"},{"issue":"5646","key":"1566_CR15","doi-asserted-by":"publisher","first-page":"841","DOI":"10.1126\/science.1090278","volume":"302","author":"AB Singleton","year":"2003","unstructured":"Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, et al. alpha-synuclein locus triplication causes Parkinson\u2019s disease. Science. 2003;302(5646):841.","journal-title":"Science"},{"key":"1566_CR16","doi-asserted-by":"publisher","first-page":"S22","DOI":"10.1038\/ng2054","volume":"39","author":"GM Cooper","year":"2007","unstructured":"Cooper GM, Nickerson DA, Eichler EE. Mutational and selective effects on copy-number variants in the human genome. Nat Genet. 2007;39:S22\u20139.","journal-title":"Nat Genet"},{"issue":"21","key":"1566_CR17","doi-asserted-by":"publisher","first-page":"8006","DOI":"10.1073\/pnas.0602318103","volume":"103","author":"GH Perry","year":"2006","unstructured":"Perry GH, Tchinda J, McGrath SD, Zhang JJ, Picker SR, Caceres AM, Iafrate AJ, Tyler-Smith C, Scherer SW, Eichler EE, et al. Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A. 2006;103(21):8006\u201311.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"11","key":"1566_CR18","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1038\/ng.2007.9","volume":"39","author":"Z Jiang","year":"2007","unstructured":"Jiang Z, Tang H, Ventura M, Cardone MF, Marques-Bonet T, She X, Pevzner PA, Eichler EE. Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet. 2007;39(11):1361\u20138.","journal-title":"Nat Genet"},{"key":"1566_CR19","doi-asserted-by":"publisher","first-page":"S30","DOI":"10.1038\/ng2042","volume":"39","author":"DF Conrad","year":"2007","unstructured":"Conrad DF, Hurles ME. The population genetics of structural variation. Nat Genet. 2007;39:S30\u20136.","journal-title":"Nat Genet"},{"issue":"1","key":"1566_CR20","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1159\/000106437","volume":"118","author":"SJ White","year":"2007","unstructured":"White SJ, Vissers LELM, Van Kessel AG, De Menezes RX, Kalay E, Lehesjoki AE, Giordano PC, van de Vosse E, Breuning MH, Brunner HG, et al. Variation of CNV distribution in five different ethnic populations. Cytogenet Genome Res. 2007;118(1):19\u201330.","journal-title":"Cytogenet Genome Res"},{"issue":"2","key":"1566_CR21","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/2524","volume":"20","author":"D Pinkel","year":"1998","unstructured":"Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet. 1998;20(2):207\u201311.","journal-title":"Nat Genet"},{"issue":"1","key":"1566_CR22","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1038\/nmeth1156","volume":"5","author":"SC Schuster","year":"2008","unstructured":"Schuster SC. Next-generation sequencing transforms today\u2019s biology. Nat Methods. 2008;5(1):16\u20138.","journal-title":"Nat Methods"},{"issue":"6","key":"1566_CR23","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1016\/j.gde.2006.10.009","volume":"16","author":"DR Bentley","year":"2006","unstructured":"Bentley DR. Whole-genome re-sequencing. Curr Opin Genet Dev. 2006;16(6):545\u201352.","journal-title":"Curr Opin Genet Dev"},{"issue":"7057","key":"1566_CR24","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/nature03959","volume":"437","author":"M Margulies","year":"2005","unstructured":"Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen ZT, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature. 2005;437(7057):376\u201380.","journal-title":"Nature"},{"issue":"7","key":"1566_CR25","doi-asserted-by":"publisher","first-page":"1051","DOI":"10.1101\/gr.076463.108","volume":"18","author":"A Valouev","year":"2008","unstructured":"Valouev A, Ichikawa J, Tonthat T, Stuart J, Ranade S, Peckham H, Zeng K, Malek JA, Costa G, McKernan K, et al. A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res. 2008;18(7):1051\u201363.","journal-title":"Genome Res"},{"issue":"11","key":"1566_CR26","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1186\/1471-2105-14-S11-S1","volume":"14","author":"M Zhao","year":"2013","unstructured":"Zhao M, Wang Q, Wang Q, Jia P, Zhao Z. Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives. BMC Bioinformatics. 2013;14(11):S1.","journal-title":"BMC Bioinformatics"},{"issue":"11","key":"1566_CR27","doi-asserted-by":"publisher","first-page":"S13","DOI":"10.1038\/nmeth.1374","volume":"6","author":"P Medvedev","year":"2009","unstructured":"Medvedev P, Stanciu M, Brudno M. Computational methods for discovering structural variation with next-generation sequencing. Nat Methods. 2009;6(11):S13\u201320.","journal-title":"Nat Methods"},{"issue":"1","key":"1566_CR28","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1038\/nmeth.1276","volume":"6","author":"DY Chiang","year":"2009","unstructured":"Chiang DY, Getz G, Jaffe DB, O\u2019Kelly MJT, Zhao XJ, Carter SL, Russ C, Nusbaum C, Meyerson M, Lander ES. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods. 2009;6(1):99\u2013103.","journal-title":"Nat Methods"},{"key":"1566_CR29","doi-asserted-by":"crossref","unstructured":"Xie C, Tammi MT. CNV-seq, a new method to detect copy number variation using high-throughput sequencing. Bmc Bioinformatics. 2009;10.","DOI":"10.1186\/1471-2105-10-80"},{"issue":"11","key":"1566_CR30","doi-asserted-by":"publisher","first-page":"1665","DOI":"10.1101\/gr.6861907","volume":"17","author":"K Wang","year":"2007","unstructured":"Wang K, Li MY, Hadley D, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007;17(11):1665\u201374.","journal-title":"Genome Res"},{"issue":"8","key":"1566_CR31","doi-asserted-by":"publisher","first-page":"1525","DOI":"10.1101\/gr.138115.112","volume":"22","author":"N Krumm","year":"2012","unstructured":"Krumm N, Sudmant PH, Ko A, O\u2019Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE, Project NES. Copy number variation detection and genotyping from exome sequence data. Genome Res. 2012;22(8):1525\u201332.","journal-title":"Genome Res"},{"issue":"6","key":"1566_CR32","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1101\/gr.114876.110","volume":"21","author":"A Abyzov","year":"2011","unstructured":"Abyzov A, Urban AE, Snyder M, Gerstein M. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res. 2011;21(6):974\u201384.","journal-title":"Genome Res"},{"issue":"11","key":"1566_CR33","doi-asserted-by":"publisher","first-page":"1613","DOI":"10.1101\/gr.106344.110","volume":"20","author":"P Medvedev","year":"2010","unstructured":"Medvedev P, Fiume M, Dzamba M, Smith T, Brudno M. Detecting copy number variation with mated short reads. Genome Res. 2010;20(11):1613\u201322.","journal-title":"Genome Res"},{"issue":"4","key":"1566_CR34","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.ajhg.2012.08.005","volume":"91","author":"M Fromer","year":"2012","unstructured":"Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O\u2019Donovan MC, Owen MJ, et al. Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth. Am J Hum Genet. 2012;91(4):597\u2013607.","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1566_CR35","doi-asserted-by":"publisher","first-page":"S4","DOI":"10.1186\/1471-2105-12-S6-S4","volume":"12","author":"Y Shen","year":"2011","unstructured":"Shen Y, Gu Y, Pe\u2019er I. A hidden Markov model for copy number variant prediction from whole genome resequencing data. BMC Bioinformatics. 2011;12(6):S4.","journal-title":"BMC Bioinformatics"},{"issue":"14","key":"1566_CR36","doi-asserted-by":"publisher","first-page":"S7","DOI":"10.1186\/1471-2105-12-S14-S7","volume":"12","author":"S Suzuki","year":"2011","unstructured":"Suzuki S, Yasuda T, Shiraishi Y, Miyano S, Nagasaki M. ClipCrop: a tool for detecting structural variations with single-base resolution using soft-clipping information. BMC Bioinformatics. 2011;12(14):S7.","journal-title":"BMC Bioinformatics"},{"key":"1566_CR37","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/978-1-4612-1694-0_15","volume-title":"Selected Papers of Hirotugu Akaike","author":"H Akaike","year":"1998","unstructured":"Akaike H. Information theory and an extension of the maximum likelihood principle. In: Selected Papers of Hirotugu Akaike. New York: Springer; 1998. p. 199\u2013213."},{"issue":"2","key":"1566_CR38","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1214\/aos\/1176344136","volume":"6","author":"G Schwarz","year":"1978","unstructured":"Schwarz G. Estimating the dimension of a model. Ann Stat. 1978;6(2):461\u20134.","journal-title":"Ann Stat"},{"issue":"3","key":"1566_CR39","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1111\/j.1467-8640.1994.tb00166.x","volume":"10","author":"W Lam","year":"1994","unstructured":"Lam W, Bacchus F. Learning Bayesian belief networks: An approach based on the MDL principle. Comput Intell. 1994;10(3):269\u201393.","journal-title":"Comput Intell"},{"key":"1566_CR40","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1007\/11925231_46","volume-title":"MICAI 2006: Advances in Artificial Intelligence","author":"N Cruz-Ram\u00edrez","year":"2006","unstructured":"Cruz-Ram\u00edrez N, Acosta-Mesa H-G, Barrientos-Mart\u00ednez R-E, Nava-Fern\u00e1ndez L-A. How good are the Bayesian information criterion and the minimum description length principle for model selection? A Bayesian network analysis. In: MICAI 2006: Advances in Artificial Intelligence. New York: Springer; 2006. p. 494\u2013504."},{"issue":"14","key":"1566_CR41","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754\u201360.","journal-title":"Bioinformatics"},{"issue":"9","key":"1566_CR42","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297\u2013303.","journal-title":"Genome Res"},{"issue":"4","key":"1566_CR43","doi-asserted-by":"publisher","first-page":"935","DOI":"10.1534\/genetics.109.103218","volume":"182","author":"B Daines","year":"2009","unstructured":"Daines B, Wang H, Li YM, Han Y, Gibbs R, Chen R. High-Throughput Multiplex Sequencing to Discover Copy Number Variants in Drosophila. Genetics. 2009;182(4):935\u201341.","journal-title":"Genetics"},{"issue":"9","key":"1566_CR44","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1038\/nmeth.1363","volume":"6","author":"K Chen","year":"2009","unstructured":"Chen K, Wallis JW, McLellan MD, Larson DE, Kalicki JM, Pohl CS, McGrath SD, Wendl MC, Zhang QY, Locke DP, et al. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods. 2009;6(9):677\u2013U676.","journal-title":"Nat Methods"},{"key":"1566_CR45","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/gb-2013-14-10-r120","volume":"14","author":"A Magi","year":"2013","unstructured":"Magi A, Tattini L, Cifola I, D\u2019Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, et al. EXCAVATOR: detecting copy number variants from whole-exome sequencing data. Genome Biol. 2013;14:10.","journal-title":"Genome Biol"},{"issue":"9","key":"1566_CR46","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1093\/jnci\/dji112","volume":"97","author":"F Cappuzzo","year":"2005","unstructured":"Cappuzzo F, Hirsch FR, Rossi E, Bartolini S, Ceresoli GL, Bemis L, Haney J, Witta S, Danenberg K, Domenichini I, et al. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J Natl Cancer Inst. 2005;97(9):643\u201355.","journal-title":"J Natl Cancer Inst"},{"issue":"7283","key":"1566_CR47","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1038\/nature08822","volume":"463","author":"R Beroukhim","year":"2010","unstructured":"Beroukhim R, Mermel CH, Porter D, Wei G, Raychaudhuri S, Donovan J, Barretina J, Boehm JS, Dobson J, Urashima M, et al. The landscape of somatic copy-number alteration across human cancers. Nature. 2010;463(7283):899\u2013905.","journal-title":"Nature"},{"issue":"10","key":"1566_CR48","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq072","volume":"38","author":"M Mokry","year":"2010","unstructured":"Mokry M, Feitsma H, Nijman IJ, De Bruijn E, van der Zaag PJ, Guryev V, Cuppen E. Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries. Nucleic Acids Res. 2010;38(10), e116.","journal-title":"Nucleic Acids Res"}],"container-title":["BMC Bioinformatics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-017-1566-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12859-017-1566-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12859-017-1566-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T10:41:50Z","timestamp":1589452910000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcbioinformatics.biomedcentral.com\/articles\/10.1186\/s12859-017-1566-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,3]]},"references-count":48,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["1566"],"URL":"https:\/\/doi.org\/10.1186\/s12859-017-1566-3","relation":{},"ISSN":["1471-2105"],"issn-type":[{"value":"1471-2105","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,3]]},"assertion":[{"value":"16 April 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 February 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 March 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"147"}}