{"id":"https://openalex.org/W2292093399","doi":"https://doi.org/10.1093/bioinformatics/btv707","title":"Joint detection of copy number variations in parent-offspring trios","display_name":"Joint detection of copy number variations in parent-offspring trios","publication_year":2015,"publication_date":"2015-12-07","ids":{"openalex":"https://openalex.org/W2292093399","doi":"https://doi.org/10.1093/bioinformatics/btv707","mag":"2292093399","pmid":"https://pubmed.ncbi.nlm.nih.gov/26644415"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btv707","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv707","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/8/1130/16920636/btv707.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/32/8/1130/16920636/btv707.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5009730904","display_name":"Yongzhuang Liu","orcid":"https://orcid.org/0000-0002-2572-7420"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yongzhuang Liu","raw_affiliation_strings":["1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101681117","display_name":"Jian Liu","orcid":"https://orcid.org/0000-0003-4192-8721"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jian Liu","raw_affiliation_strings":["1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014709725","display_name":"Jianguo L\u00fc","orcid":"https://orcid.org/0000-0002-3966-8812"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jianguo Lu","raw_affiliation_strings":["1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084343474","display_name":"Jiajie Peng","orcid":"https://orcid.org/0000-0002-3857-7927"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jiajie Peng","raw_affiliation_strings":["1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056364272","display_name":"Liran Juan","orcid":"https://orcid.org/0000-0001-8826-0269"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liran Juan","raw_affiliation_strings":["1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,","institution_ids":["https://openalex.org/I204983213"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077362015","display_name":"Xiaolin Zhu","orcid":"https://orcid.org/0000-0002-3221-595X"},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xiaolin Zhu","raw_affiliation_strings":["2 Institute for Genomic Medicine, Columbia University, New York, NY 10032,","3 University Program in Genetics and Genomics, Duke University Medical School, Durham, NC 27708,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2 Institute for Genomic Medicine, Columbia University, New York, NY 10032,","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"3 University Program in Genetics and Genomics, Duke University Medical School, Durham, NC 27708,","institution_ids":["https://openalex.org/I170897317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028708641","display_name":"Bingshan Li","orcid":"https://orcid.org/0000-0003-2129-168X"},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bingshan Li","raw_affiliation_strings":["4 Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37235 and","5 Center for Quantitative Sciences, Vanderbilt University, Nashville, TN 37235, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"4 Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37235 and","institution_ids":["https://openalex.org/I200719446"]},{"raw_affiliation_string":"5 Center for Quantitative Sciences, Vanderbilt University, Nashville, TN 37235, USA","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5100392447","display_name":"Yadong Wang","orcid":"https://orcid.org/0000-0001-6500-6217"},"institutions":[{"id":"https://openalex.org/I204983213","display_name":"Harbin Institute of Technology","ror":"https://ror.org/01yqg2h08","country_code":"CN","type":"education","lineage":["https://openalex.org/I204983213"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Yadong Wang","raw_affiliation_strings":["1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 School of Computer Science and Technology, Harbin Institute of Technology, Harbin 150001, China,","institution_ids":["https://openalex.org/I204983213"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5100392447"],"corresponding_institution_ids":["https://openalex.org/I204983213"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":1.428,"has_fulltext":false,"cited_by_count":18,"citation_normalized_percentile":{"value":0.8430405,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"32","issue":"8","first_page":"1130","last_page":"1137"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9905999898910522,"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":0.9905999898910522,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0015999999595806003,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0012000000569969416,"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":0.6535623073577881},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.639043390750885},{"id":"https://openalex.org/keywords/offspring","display_name":"Offspring","score":0.6268429756164551},{"id":"https://openalex.org/keywords/hidden-markov-model","display_name":"Hidden Markov model","score":0.5391879677772522},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.47302818298339844},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.38454532623291016},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.36093878746032715},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.35958921909332275},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.330497145652771},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.3010890483856201},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1807638704776764}],"concepts":[{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.6535623073577881},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.639043390750885},{"id":"https://openalex.org/C112672928","wikidata":"https://www.wikidata.org/wiki/Q239526","display_name":"Offspring","level":3,"score":0.6268429756164551},{"id":"https://openalex.org/C23224414","wikidata":"https://www.wikidata.org/wiki/Q176769","display_name":"Hidden Markov model","level":2,"score":0.5391879677772522},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.47302818298339844},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.38454532623291016},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36093878746032715},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.35958921909332275},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.330497145652771},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.3010890483856201},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1807638704776764},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010290","descriptor_name":"Parents","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010290","descriptor_name":"Parents","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010290","descriptor_name":"Parents","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btv707","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv707","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/8/1130/16920636/btv707.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:26644415","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26644415","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:open-archive.highwire.org:bioinfo:32/8/1130","is_oa":false,"landing_page_url":"http://bioinformatics.oxfordjournals.org/cgi/content/short/32/8/1130","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"TEXT"},{"id":"pmh:oai:pubmedcentral.nih.gov:4907378","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4907378","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btv707","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv707","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/8/1130/16920636/btv707.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G7301919874","display_name":null,"funder_award_id":"R01 HG006857","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"}],"funders":[{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":42,"referenced_works":["https://openalex.org/W1971321176","https://openalex.org/W1973502710","https://openalex.org/W2010164205","https://openalex.org/W2010361633","https://openalex.org/W2018742603","https://openalex.org/W2025707469","https://openalex.org/W2042004678","https://openalex.org/W2045392412","https://openalex.org/W2046421695","https://openalex.org/W2046601740","https://openalex.org/W2056571985","https://openalex.org/W2059386911","https://openalex.org/W2065817684","https://openalex.org/W2074579392","https://openalex.org/W2083870688","https://openalex.org/W2091494564","https://openalex.org/W2095680943","https://openalex.org/W2096890220","https://openalex.org/W2097360336","https://openalex.org/W2103441770","https://openalex.org/W2111350087","https://openalex.org/W2116126626","https://openalex.org/W2117851649","https://openalex.org/W2121539425","https://openalex.org/W2130656856","https://openalex.org/W2138014988","https://openalex.org/W2138189131","https://openalex.org/W2139327842","https://openalex.org/W2140888103","https://openalex.org/W2146005104","https://openalex.org/W2148811088","https://openalex.org/W2150264767","https://openalex.org/W2150506261","https://openalex.org/W2151834457","https://openalex.org/W2153056550","https://openalex.org/W2154397429","https://openalex.org/W2157539385","https://openalex.org/W2161076658","https://openalex.org/W2166657289","https://openalex.org/W2167722550","https://openalex.org/W2168133698","https://openalex.org/W2255107171"],"related_works":["https://openalex.org/W1541766870","https://openalex.org/W1869530794","https://openalex.org/W4239170063","https://openalex.org/W2023761240","https://openalex.org/W4234400896","https://openalex.org/W3117169687","https://openalex.org/W2063472312","https://openalex.org/W2058336589","https://openalex.org/W2003922337","https://openalex.org/W2131773109"],"abstract_inverted_index":{"MOTIVATION:":[0],"Whole":[1],"genome":[2],"sequencing":[3],"(WGS)":[4],"of":[5,116,153],"parent-offspring":[6,46,73,118],"trios":[7,74],"is":[8,157],"a":[9,31,65,105,117,127,151],"powerful":[10],"approach":[11,67],"for":[12,27,68,113],"identifying":[13],"disease-associated":[14],"genes":[15],"via":[16],"detecting":[17,70],"copy":[18],"number":[19],"variations":[20],"(CNVs).":[21],"Existing":[22],"approaches,":[23],"which":[24],"detect":[25],"CNVs":[26,71,112],"each":[28],"individual":[29],"in":[30,72],"trio":[32,47,128],"independently,":[33],"usually":[34],"yield":[35],"low-detection":[36],"accuracy.":[37,57],"Joint":[38],"modeling":[39],"approaches":[40],"leveraging":[41],"Mendelian":[42],"transmission":[43],"within":[44],"the":[45,84,100,161],"can":[48],"be":[49],"an":[50],"efficient":[51],"strategy":[52],"to":[53,109,122],"improve":[54],"CNV":[55],"detection":[56],"RESULTS:":[58],"In":[59],"this":[60],"study,":[61],"we":[62,82,98,133],"developed":[63],"TrioCNV,":[64],"novel":[66],"jointly":[69,110],"from":[75,129,160],"WGS":[76],"data.":[77],"Using":[78],"negative":[79],"binomial":[80],"regression,":[81],"modeled":[83],"read":[85],"depth":[86],"signal":[87],"while":[88],"considering":[89],"both":[90,123],"GC":[91],"content":[92],"bias":[93],"and":[94,103,126,155],"mappability":[95],"bias.":[96],"Moreover,":[97],"incorporated":[99],"family":[101],"relationship":[102],"used":[104],"hidden":[106],"Markov":[107],"model":[108],"infer":[111],"three":[114],"samples":[115],"trio.":[119],"Through":[120],"application":[121],"simulated":[124],"data":[125,170],"1000":[130],"Genomes":[131],"Project,":[132],"showed":[134],"that":[135],"TrioCNV":[136,148],"achieved":[137],"superior":[138],"performance":[139],"than":[140],"existing":[141],"approaches.":[142],"AVAILABILITY":[143],"AND":[144],"IMPLEMENTATION:":[145],"The":[146],"software":[147],"implemented":[149],"using":[150],"combination":[152],"Java":[154],"R":[156],"freely":[158],"available":[159,172],"website":[162],"at":[163,173],"https://github.com/yongzhuang/TrioCNV":[164],"CONTACT:":[165],"ydwang@hit.edu.cn":[166],"SUPPLEMENTARY":[167],"INFORMATION:":[168],"Supplementary":[169],"are":[171],"Bioinformatics":[174],"online.":[175]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2025-10-10T00:00:00"}
