{"id":"https://openalex.org/W2996986961","doi":"https://doi.org/10.1109/access.2019.2962156","title":"CRSCNV: A Cross-Model-Based Statistical Approach to Detect Copy Number Variations in Sequence Data","display_name":"CRSCNV: A Cross-Model-Based Statistical Approach to Detect Copy Number Variations in Sequence Data","publication_year":2019,"publication_date":"2019-12-25","ids":{"openalex":"https://openalex.org/W2996986961","doi":"https://doi.org/10.1109/access.2019.2962156","mag":"2996986961"},"language":"en","primary_location":{"id":"doi:10.1109/access.2019.2962156","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2019.2962156","pdf_url":null,"source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Access","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1109/access.2019.2962156","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100758888","display_name":"Guojun Liu","orcid":"https://orcid.org/0000-0002-0791-8119"},"institutions":[{"id":"https://openalex.org/I149594827","display_name":"Xidian University","ror":"https://ror.org/05s92vm98","country_code":"CN","type":"education","lineage":["https://openalex.org/I149594827"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Guojun Liu","raw_affiliation_strings":["School of Computer Science and Technology, Xidian University, Xi\u2019an, China","School of Computer Science and Technology, Xidian University, Xi'an, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi\u2019an, China","institution_ids":["https://openalex.org/I149594827"]},{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi'an, China","institution_ids":["https://openalex.org/I149594827"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017698164","display_name":"Xiguo Yuan","orcid":"https://orcid.org/0000-0002-0822-5189"},"institutions":[{"id":"https://openalex.org/I149594827","display_name":"Xidian University","ror":"https://ror.org/05s92vm98","country_code":"CN","type":"education","lineage":["https://openalex.org/I149594827"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiguo Yuan","raw_affiliation_strings":["School of Computer Science and Technology, Xidian University, Xi\u2019an, China","School of Computer Science and Technology, Xidian University, Xi'an, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi\u2019an, China","institution_ids":["https://openalex.org/I149594827"]},{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi'an, China","institution_ids":["https://openalex.org/I149594827"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100618936","display_name":"Junying Zhang","orcid":"https://orcid.org/0000-0002-7511-0277"},"institutions":[{"id":"https://openalex.org/I149594827","display_name":"Xidian University","ror":"https://ror.org/05s92vm98","country_code":"CN","type":"education","lineage":["https://openalex.org/I149594827"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Junying Zhang","raw_affiliation_strings":["School of Computer Science and Technology, Xidian University, Xi\u2019an, China","School of Computer Science and Technology, Xidian University, Xi'an, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi\u2019an, China","institution_ids":["https://openalex.org/I149594827"]},{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi'an, China","institution_ids":["https://openalex.org/I149594827"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101808940","display_name":"Haiyong Zhao","orcid":"https://orcid.org/0000-0002-0380-9134"},"institutions":[{"id":"https://openalex.org/I196934937","display_name":"Liaocheng University","ror":"https://ror.org/03yh0n709","country_code":"CN","type":"education","lineage":["https://openalex.org/I196934937"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Haiyong Zhao","raw_affiliation_strings":["School of Computer Science and Technology, Liaocheng University, Liaocheng, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Technology, Liaocheng University, Liaocheng, China","institution_ids":["https://openalex.org/I196934937"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100620925","display_name":"Junping Li","orcid":"https://orcid.org/0000-0001-7377-5518"},"institutions":[{"id":"https://openalex.org/I149594827","display_name":"Xidian University","ror":"https://ror.org/05s92vm98","country_code":"CN","type":"education","lineage":["https://openalex.org/I149594827"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Junping Li","raw_affiliation_strings":["School of Computer Science and Technology, Xidian University, Xi\u2019an, China","School of Computer Science and Technology, Xidian University, Xi'an, China"],"affiliations":[{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi\u2019an, China","institution_ids":["https://openalex.org/I149594827"]},{"raw_affiliation_string":"School of Computer Science and Technology, Xidian University, Xi'an, China","institution_ids":["https://openalex.org/I149594827"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023726254","display_name":"Junbo Duan","orcid":"https://orcid.org/0000-0001-7170-3772"},"institutions":[{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Junbo Duan","raw_affiliation_strings":["School of Life Science and Technology, Xi\u2019an Jiaotong University, Xi\u2019an, China","School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, China"],"affiliations":[{"raw_affiliation_string":"School of Life Science and Technology, Xi\u2019an Jiaotong University, Xi\u2019an, China","institution_ids":["https://openalex.org/I87445476"]},{"raw_affiliation_string":"School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, China","institution_ids":["https://openalex.org/I87445476"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5100758888"],"corresponding_institution_ids":["https://openalex.org/I149594827"],"apc_list":{"value":1850,"currency":"USD","value_usd":1850},"apc_paid":{"value":1850,"currency":"USD","value_usd":1850},"fwci":0.3572,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.70647996,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"8","issue":null,"first_page":"2302","last_page":"2312"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9998999834060669,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9998999834060669,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9973999857902527,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.7331741452217102},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6454946994781494},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.6441118717193604},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.42668643593788147},{"id":"https://openalex.org/keywords/human-genome","display_name":"Human genome","score":0.42176929116249084},{"id":"https://openalex.org/keywords/statistical-hypothesis-testing","display_name":"Statistical hypothesis testing","score":0.41291457414627075},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3598881959915161},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.35309988260269165},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.22522586584091187},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.20617902278900146},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.14860567450523376},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.11244770884513855},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.10506260395050049}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.7331741452217102},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6454946994781494},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.6441118717193604},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.42668643593788147},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.42176929116249084},{"id":"https://openalex.org/C87007009","wikidata":"https://www.wikidata.org/wiki/Q210832","display_name":"Statistical hypothesis testing","level":2,"score":0.41291457414627075},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3598881959915161},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.35309988260269165},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.22522586584091187},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20617902278900146},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.14860567450523376},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.11244770884513855},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10506260395050049}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1109/access.2019.2962156","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2019.2962156","pdf_url":null,"source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Access","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:945bfe2168d740599845aa3d992ddaff","is_oa":true,"landing_page_url":"https://doaj.org/article/945bfe2168d740599845aa3d992ddaff","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"IEEE Access, Vol 8, Pp 2302-2312 (2020)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1109/access.2019.2962156","is_oa":true,"landing_page_url":"https://doi.org/10.1109/access.2019.2962156","pdf_url":null,"source":{"id":"https://openalex.org/S2485537415","display_name":"IEEE Access","issn_l":"2169-3536","issn":["2169-3536"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310319808","host_organization_name":"Institute of Electrical and Electronics Engineers","host_organization_lineage":["https://openalex.org/P4310319808"],"host_organization_lineage_names":["Institute of Electrical and Electronics Engineers"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"IEEE Access","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Partnerships for the goals","score":0.4300000071525574,"id":"https://metadata.un.org/sdg/17"}],"awards":[{"id":"https://openalex.org/G3070698702","display_name":null,"funder_award_id":"JB190302","funder_id":"https://openalex.org/F4320335787","funder_display_name":"Fundamental Research Funds for the Central Universities"},{"id":"https://openalex.org/G7623042354","display_name":null,"funder_award_id":"61571341","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"},{"id":"https://openalex.org/F4320335787","display_name":"Fundamental Research Funds for the Central Universities","ror":null}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":70,"referenced_works":["https://openalex.org/W1481143593","https://openalex.org/W1680392829","https://openalex.org/W1853318756","https://openalex.org/W1965856472","https://openalex.org/W1966938977","https://openalex.org/W1981734114","https://openalex.org/W1987010559","https://openalex.org/W1987975628","https://openalex.org/W1997031801","https://openalex.org/W2012151892","https://openalex.org/W2013798014","https://openalex.org/W2014477412","https://openalex.org/W2018604728","https://openalex.org/W2022385074","https://openalex.org/W2046601740","https://openalex.org/W2050023599","https://openalex.org/W2052549259","https://openalex.org/W2061680337","https://openalex.org/W2065641910","https://openalex.org/W2069397120","https://openalex.org/W2084591827","https://openalex.org/W2090144921","https://openalex.org/W2092203068","https://openalex.org/W2093725041","https://openalex.org/W2097331151","https://openalex.org/W2101309602","https://openalex.org/W2102941013","https://openalex.org/W2108234281","https://openalex.org/W2112706474","https://openalex.org/W2114034064","https://openalex.org/W2115783720","https://openalex.org/W2120062331","https://openalex.org/W2123431154","https://openalex.org/W2124873881","https://openalex.org/W2124896761","https://openalex.org/W2125141283","https://openalex.org/W2128847448","https://openalex.org/W2130764500","https://openalex.org/W2131088968","https://openalex.org/W2133339454","https://openalex.org/W2134672574","https://openalex.org/W2137550512","https://openalex.org/W2137779717","https://openalex.org/W2140869203","https://openalex.org/W2140888103","https://openalex.org/W2141704631","https://openalex.org/W2150284179","https://openalex.org/W2150506261","https://openalex.org/W2153056550","https://openalex.org/W2155707112","https://openalex.org/W2168713159","https://openalex.org/W2169964199","https://openalex.org/W2230465815","https://openalex.org/W2337209831","https://openalex.org/W2343469482","https://openalex.org/W2520044869","https://openalex.org/W2758252083","https://openalex.org/W2767035748","https://openalex.org/W2775698023","https://openalex.org/W2796391389","https://openalex.org/W2798053997","https://openalex.org/W2800278683","https://openalex.org/W2902308587","https://openalex.org/W2911343700","https://openalex.org/W2979899262","https://openalex.org/W3144230659","https://openalex.org/W4247053599","https://openalex.org/W6636754637","https://openalex.org/W6637386731","https://openalex.org/W6639112882"],"related_works":["https://openalex.org/W2899084033","https://openalex.org/W2513883126","https://openalex.org/W3118014344","https://openalex.org/W2160911017","https://openalex.org/W2365914065","https://openalex.org/W3166677598","https://openalex.org/W1969895229","https://openalex.org/W2026058428","https://openalex.org/W2082414949","https://openalex.org/W2108497208"],"abstract_inverted_index":{"Copy":[0],"number":[1,63,184,221],"variation":[2],"(CNV)":[3],"is":[4,15,30,46,78,133,165,236],"an":[5],"important":[6],"type":[7],"of":[8,25,39,56,64,76,124,160,172,179,185,222,246],"mutation":[9],"in":[10,27,43,70,84,105,140,244],"the":[11,40,71,122,128,152,170,177,192,201],"human":[12],"genome,":[13],"and":[14,20,188,206,226],"significantly":[16],"associated":[17,87],"with":[18,88,230],"cancer":[19],"other":[21],"diseases.":[22],"Accurate":[23],"detection":[24],"CNVs":[26,83,104,225,229],"tumor":[28],"genomes":[29],"crucial":[31],"for":[32,240],"biologists":[33],"aiming":[34],"to":[35,47,52,81,102,120,130,191],"understand":[36],"tumorigenesis.":[37],"One":[38],"key":[41],"steps":[42],"this":[44,92],"task":[45],"establish":[48],"a":[49,61,96,116,147,162,182,220,237],"reasonable":[50],"model":[51,149,164],"conduct":[53],"meaningful":[54],"assessment":[55],"each":[57,141],"genome":[58,125,129],"region.":[59],"Although":[60],"great":[62],"computational":[65],"approaches":[66],"have":[67],"been":[68],"developed":[69],"past":[72],"few":[73],"years,":[74],"none":[75],"them":[77],"versatile":[79],"enough":[80],"detect":[82,103],"all":[85],"scenarios":[86,245],"complex":[89],"genomes.":[90],"In":[91],"paper,":[93],"we":[94],"propose":[95],"new":[97],"statistical":[98,118,148],"approach,":[99],"called":[100],"CRSCNV,":[101,211],"individual":[106],"samples,":[107,216],"based":[108,150],"on":[109,151,181],"next-generation":[110],"sequencing":[111,215],"data.":[112],"The":[113,138,158,195],"approach":[114,239],"adopts":[115],"cross-model-based":[117],"strategy":[119],"test":[121],"significance":[123],"bins,":[126],"i.e.,":[127],"be":[131],"analyzed":[132],"divided":[134],"into":[135],"N":[136],"parts.":[137,157],"bins":[139],"part":[142],"are":[143],"tested":[144,176],"by":[145],"establishing":[146],"remaining":[153],"(N":[154],"-":[155],"1)":[156],"advantage":[159],"such":[161],"cross":[163],"that":[166,198],"it":[167,190,218],"can":[168],"improve":[169],"meaning":[171],"P-value":[173],"assessment.":[174],"We":[175,208],"performance":[178],"CRSCNV":[180,199,235],"large":[183],"simulation":[186],"datasets":[187],"compared":[189],"state-of-the-art":[193],"methods.":[194],"results":[196],"demonstrated":[197],"achieved":[200],"best":[202],"trade-off":[203],"between":[204],"recall":[205],"precision.":[207],"further":[209],"validated":[210],"using":[212],"several":[213],"real":[214],"where":[217],"produced":[219],"previously":[223],"reported":[224],"some":[227],"additional":[228],"potential":[231],"biological":[232],"importance.":[233],"Thus,":[234],"reliable":[238],"CNV":[241],"detection,":[242],"even":[243],"extremely":[247],"low":[248],"purity.":[249]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}