{"id":"https://openalex.org/W2230465815","doi":"https://doi.org/10.1093/bioinformatics/btv751","title":"SV-Bay: structural variant detection in cancer genomes using a Bayesian approach with correction for GC-content and read mappability","display_name":"SV-Bay: structural variant detection in cancer genomes using a Bayesian approach with correction for GC-content and read mappability","publication_year":2016,"publication_date":"2016-01-06","ids":{"openalex":"https://openalex.org/W2230465815","doi":"https://doi.org/10.1093/bioinformatics/btv751","mag":"2230465815","pmid":"https://pubmed.ncbi.nlm.nih.gov/26740523"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btv751","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv751","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/7/984/49018477/bioinformatics_32_7_984.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","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":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/32/7/984/49018477/bioinformatics_32_7_984.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5046784465","display_name":"Daria Iakovishina","orcid":null},"institutions":[{"id":"https://openalex.org/I1326498283","display_name":"Institut national de recherche en sciences et technologies du num\u00e9rique","ror":"https://ror.org/02kvxyf05","country_code":"FR","type":"government","lineage":["https://openalex.org/I1326498283"]},{"id":"https://openalex.org/I142476485","display_name":"\u00c9cole Polytechnique","ror":"https://ror.org/05hy3tk52","country_code":"FR","type":"education","lineage":["https://openalex.org/I142476485","https://openalex.org/I4210145102"]},{"id":"https://openalex.org/I4210139461","display_name":"Laboratoire d'Informatique de l'\u00c9cole Polytechnique","ror":"https://ror.org/04afed728","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I1326498283","https://openalex.org/I142476485","https://openalex.org/I4210139461","https://openalex.org/I4210145102","https://openalex.org/I4210159245"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Daria Iakovishina","raw_affiliation_strings":["1 INRIA Projet AMIB, Ecole Polytechnique, Palaiseau, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 INRIA Projet AMIB, Ecole Polytechnique, Palaiseau, France","institution_ids":["https://openalex.org/I1326498283","https://openalex.org/I142476485","https://openalex.org/I4210139461"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058372540","display_name":"Isabelle Janoueix\u2010Lerosey","orcid":"https://orcid.org/0000-0003-0434-3003"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I80043","display_name":"Institut Curie","ror":"https://ror.org/04t0gwh46","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I80043"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Isabelle Janoueix-Lerosey","raw_affiliation_strings":["2 Institut Curie, Centre De Recherche, Paris","3 Inserm, U830, Department Genetics and Biology of Cancers, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2 Institut Curie, Centre De Recherche, Paris","institution_ids":["https://openalex.org/I80043"]},{"raw_affiliation_string":"3 Inserm, U830, Department Genetics and Biology of Cancers, Paris, France","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062067186","display_name":"Emmanuel Barillot","orcid":"https://orcid.org/0000-0003-2724-2002"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2746051580","display_name":"Universit\u00e9 Paris Sciences et Lettres","ror":"https://ror.org/013cjyk83","country_code":"FR","type":"education","lineage":["https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I70768539","display_name":"\u00c9cole Nationale Sup\u00e9rieure des Mines de Paris","ror":"https://ror.org/04y8cs423","country_code":"FR","type":"education","lineage":["https://openalex.org/I190752583","https://openalex.org/I2746051580","https://openalex.org/I70768539"]},{"id":"https://openalex.org/I80043","display_name":"Institut Curie","ror":"https://ror.org/04t0gwh46","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I80043"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Emmanuel Barillot","raw_affiliation_strings":["2 Institut Curie, Centre De Recherche, Paris","4 Inserm, Department of Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, U900, Paris, France","5 Mines ParisTech, Centre for Computational Biology, Fontainebleau, France","6 PSL Research University, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2 Institut Curie, Centre De Recherche, Paris","institution_ids":["https://openalex.org/I80043"]},{"raw_affiliation_string":"4 Inserm, Department of Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, U900, Paris, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"5 Mines ParisTech, Centre for Computational Biology, Fontainebleau, France","institution_ids":["https://openalex.org/I70768539"]},{"raw_affiliation_string":"6 PSL Research University, Paris, France","institution_ids":["https://openalex.org/I2746051580"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105346792","display_name":"Mireille R\u00e9gnier","orcid":"https://orcid.org/0000-0001-9566-0105"},"institutions":[{"id":"https://openalex.org/I1326498283","display_name":"Institut national de recherche en sciences et technologies du num\u00e9rique","ror":"https://ror.org/02kvxyf05","country_code":"FR","type":"government","lineage":["https://openalex.org/I1326498283"]},{"id":"https://openalex.org/I142476485","display_name":"\u00c9cole Polytechnique","ror":"https://ror.org/05hy3tk52","country_code":"FR","type":"education","lineage":["https://openalex.org/I142476485","https://openalex.org/I4210145102"]},{"id":"https://openalex.org/I4210139461","display_name":"Laboratoire d'Informatique de l'\u00c9cole Polytechnique","ror":"https://ror.org/04afed728","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I1326498283","https://openalex.org/I142476485","https://openalex.org/I4210139461","https://openalex.org/I4210145102","https://openalex.org/I4210159245"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mireille Regnier","raw_affiliation_strings":["1 INRIA Projet AMIB, Ecole Polytechnique, Palaiseau, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 INRIA Projet AMIB, Ecole Polytechnique, Palaiseau, France","institution_ids":["https://openalex.org/I1326498283","https://openalex.org/I142476485","https://openalex.org/I4210139461"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074876525","display_name":"Valentina Boeva","orcid":"https://orcid.org/0000-0002-4382-7185"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2746051580","display_name":"Universit\u00e9 Paris Sciences et Lettres","ror":"https://ror.org/013cjyk83","country_code":"FR","type":"education","lineage":["https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I70768539","display_name":"\u00c9cole Nationale Sup\u00e9rieure des Mines de Paris","ror":"https://ror.org/04y8cs423","country_code":"FR","type":"education","lineage":["https://openalex.org/I190752583","https://openalex.org/I2746051580","https://openalex.org/I70768539"]},{"id":"https://openalex.org/I80043","display_name":"Institut Curie","ror":"https://ror.org/04t0gwh46","country_code":"FR","type":"nonprofit","lineage":["https://openalex.org/I80043"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Valentina Boeva","raw_affiliation_strings":["2 Institut Curie, Centre De Recherche, Paris","4 Inserm, Department of Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, U900, Paris, France","5 Mines ParisTech, Centre for Computational Biology, Fontainebleau, France","6 PSL Research University, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"2 Institut Curie, Centre De Recherche, Paris","institution_ids":["https://openalex.org/I80043"]},{"raw_affiliation_string":"4 Inserm, Department of Bioinformatics, Biostatistics, Epidemiology and Computational Systems Biology of Cancer, U900, Paris, France","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"5 Mines ParisTech, Centre for Computational Biology, Fontainebleau, France","institution_ids":["https://openalex.org/I70768539"]},{"raw_affiliation_string":"6 PSL Research University, Paris, France","institution_ids":["https://openalex.org/I2746051580"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5074876525"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I2746051580","https://openalex.org/I70768539","https://openalex.org/I80043"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":6.5583,"has_fulltext":true,"cited_by_count":40,"citation_normalized_percentile":{"value":0.96570834,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"32","issue":"7","first_page":"984","last_page":"992"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.6517000198364258,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.6517000198364258,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.179299995303154,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.04989999905228615,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.663753867149353},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6262444853782654},{"id":"https://openalex.org/keywords/bayesian-probability","display_name":"Bayesian probability","score":0.5599549412727356},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.537599503993988},{"id":"https://openalex.org/keywords/dna-sequencing","display_name":"DNA sequencing","score":0.4519176781177521},{"id":"https://openalex.org/keywords/structural-variation","display_name":"Structural variation","score":0.4192074239253998},{"id":"https://openalex.org/keywords/whole-genome-sequencing","display_name":"Whole genome sequencing","score":0.41717734932899475},{"id":"https://openalex.org/keywords/reference-genome","display_name":"Reference genome","score":0.4161511957645416},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.33854424953460693},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3340340256690979},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3319421112537384},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.29294443130493164},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.16035345196723938}],"concepts":[{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.663753867149353},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6262444853782654},{"id":"https://openalex.org/C107673813","wikidata":"https://www.wikidata.org/wiki/Q812534","display_name":"Bayesian probability","level":2,"score":0.5599549412727356},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.537599503993988},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.4519176781177521},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.4192074239253998},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.41717734932899475},{"id":"https://openalex.org/C192953774","wikidata":"https://www.wikidata.org/wiki/Q7307127","display_name":"Reference genome","level":4,"score":0.4161511957645416},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33854424953460693},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3340340256690979},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3319421112537384},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.29294443130493164},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.16035345196723938}],"mesh":[{"descriptor_ui":"D001482","descriptor_name":"Base Composition","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001482","descriptor_name":"Base Composition","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001482","descriptor_name":"Base Composition","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056186","descriptor_name":"Metagenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056186","descriptor_name":"Metagenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056186","descriptor_name":"Metagenomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/btv751","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv751","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/7/984/49018477/bioinformatics_32_7_984.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:26740523","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26740523","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:HAL:hal-01253126v1","is_oa":false,"landing_page_url":"https://inria.hal.science/hal-01253126","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics, 2016, 32, pp.984-992. &#x27E8;10.1093/bioinformatics/btv751&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:open-archive.highwire.org:bioinfo:32/7/984","is_oa":false,"landing_page_url":"http://bioinformatics.oxfordjournals.org/cgi/content/short/32/7/984","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:4896370","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4896370","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/btv751","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btv751","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/32/7/984/49018477/bioinformatics_32_7_984.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":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2230465815.pdf","grobid_xml":"https://content.openalex.org/works/W2230465815.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1567424149","https://openalex.org/W1974584391","https://openalex.org/W1992183805","https://openalex.org/W1999485420","https://openalex.org/W2007882812","https://openalex.org/W2018604728","https://openalex.org/W2024528333","https://openalex.org/W2041937775","https://openalex.org/W2046601740","https://openalex.org/W2056571985","https://openalex.org/W2065817684","https://openalex.org/W2096136407","https://openalex.org/W2097331151","https://openalex.org/W2103441770","https://openalex.org/W2103962160","https://openalex.org/W2107688500","https://openalex.org/W2109948920","https://openalex.org/W2111350087","https://openalex.org/W2121743948","https://openalex.org/W2129148650","https://openalex.org/W2131416340","https://openalex.org/W2133112449","https://openalex.org/W2134344399","https://openalex.org/W2135640980","https://openalex.org/W2137779717","https://openalex.org/W2139216037","https://openalex.org/W2139993758","https://openalex.org/W2143307936","https://openalex.org/W2146005104","https://openalex.org/W2159640103","https://openalex.org/W2163022769","https://openalex.org/W2164558813","https://openalex.org/W2166689108","https://openalex.org/W2169145121","https://openalex.org/W2169508919","https://openalex.org/W2170855681"],"related_works":["https://openalex.org/W2949103014","https://openalex.org/W2155537421","https://openalex.org/W2032247293","https://openalex.org/W2509648056","https://openalex.org/W2153994884","https://openalex.org/W2529001379","https://openalex.org/W1966520799","https://openalex.org/W3185046887","https://openalex.org/W2951005323","https://openalex.org/W2949865853"],"abstract_inverted_index":{"MOTIVATION:":[0],"Whole":[1],"genome":[2,29,118],"sequencing":[3,30,63,119],"of":[4,14,18,38,79,101,135,157,172,178,206,226],"paired-end":[5,122],"reads":[6,139],"can":[7,93],"be":[8],"applied":[9],"to":[10,69,112,164],"characterize":[11],"the":[12,61,148,158,165,170,199],"landscape":[13],"large":[15],"somatic":[16,173],"rearrangements":[17],"cancer":[19],"genomes.":[20],"Several":[21],"methods":[22,40,211],"for":[23,198,212],"detecting":[24],"structural":[25,102,114,213],"variants":[26,115],"with":[27,208],"whole":[28,117],"data":[31,64,123,241],"have":[32],"been":[33],"developed.":[34],"So":[35],"far,":[36],"none":[37],"these":[39],"has":[41,219],"combined":[42],"information":[43],"about":[44],"abnormally":[45],"mapped":[46],"read":[47,143,155,167],"pairs":[48],"connecting":[49],"rearranged":[50],"regions":[51],"and":[52,83,86,98,140,154,193,228],"associated":[53],"global":[54],"copy":[55],"number":[56],"changes":[57],"automatically":[58],"inferred":[59],"from":[60,116],"same":[62],"file.":[65],"Our":[66],"aim":[67],"was":[68],"create":[70],"a":[71,108,125,179],"computational":[72,109],"method":[73],"that":[74,88,217],"could":[75],"use":[76,177],"both":[77,96,223],"types":[78],"information,":[80],"i.e.":[81],"normal":[82,138,181],"abnormal":[84],"reads,":[85],"demonstrate":[87],"by":[89,137],"doing":[90],"so":[91],"we":[92],"highly":[94],"improve":[95],"sensitivity":[97,227],"specificity":[99],"rates":[100],"variant":[103,214],"prediction.":[104],"RESULTS:":[105],"We":[106,187],"developed":[107],"method,":[110],"SV-Bay,":[111],"detect":[113],"mate-pair":[120,196],"or":[121],"using":[124],"probabilistic":[126],"Bayesian":[127],"approach.":[128],"This":[129],"approach":[130],"takes":[131],"into":[132],"account":[133],"depth":[134],"coverage":[136],"abnormalities":[141],"in":[142,224],"pair":[144],"mappings.":[145],"To":[146],"estimate":[147],"model":[149],"likelihood,":[150],"SV-Bay":[151,175,189,207,218],"considers":[152],"GC-content":[153],"mappability":[156],"genome,":[159],"thus":[160],"making":[161],"important":[162],"corrections":[163],"expected":[166],"count.":[168],"For":[169],"detection":[171,215,230],"variants,":[174],"makes":[176],"matched":[180],"sample":[182],"when":[183],"it":[184],"is":[185],"available.":[186],"validated":[188],"on":[190],"simulated":[191],"datasets":[192],"an":[194],"experimental":[195],"dataset":[197],"CLB-GA":[200],"neuroblastoma":[201],"cell":[202],"line.":[203],"The":[204],"comparison":[205],"several":[209],"other":[210],"demonstrated":[216],"better":[220],"prediction":[221],"accuracy":[222],"terms":[225],"false-positive":[229],"rate.":[231],"AVAILABILITY":[232],"AND":[233],"IMPLEMENTATION:":[234],"https://github.com/InstitutCurie/SV-Bay":[235],"CONTACT:":[236],"valentina.boeva@inserm.fr":[237],"SUPPLEMENTARY":[238],"INFORMATION:":[239],"Supplementary":[240],"are":[242],"available":[243],"at":[244],"Bioinformatics":[245],"online.":[246]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":1}],"updated_date":"2026-07-22T07:51:19.307946","created_date":"2025-10-10T00:00:00"}
