{"id":"https://openalex.org/W7164420021","doi":"https://doi.org/10.1093/bib/bbag294","title":"gSV: a general structural variant detector using the third-generation sequencing data","display_name":"gSV: a general structural variant detector using the third-generation sequencing data","publication_year":2026,"publication_date":"2026-05-01","ids":{"openalex":"https://openalex.org/W7164420021","doi":"https://doi.org/10.1093/bib/bbag294","pmid":"https://pubmed.ncbi.nlm.nih.gov/42281400"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbag294","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbag294","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1093/bib/bbag294","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008222020","display_name":"Jingyu Hao","orcid":"https://orcid.org/0000-0002-3301-4439"},"institutions":[{"id":"https://openalex.org/I200769079","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597","country_code":"HK","type":"education","lineage":["https://openalex.org/I200769079"]},{"id":"https://openalex.org/I889458895","display_name":"University of Hong Kong","ror":"https://ror.org/02zhqgq86","country_code":"HK","type":"education","lineage":["https://openalex.org/I889458895"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Jingyu Hao","raw_affiliation_strings":["Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology , Clear Water Bay, Kowloon, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0002-3301-4439","affiliations":[{"raw_affiliation_string":"Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology , Clear Water Bay, Kowloon, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I200769079","https://openalex.org/I889458895"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062928027","display_name":"Jiandong Shi","orcid":"https://orcid.org/0000-0002-5178-8470"},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Jiandong Shi","raw_affiliation_strings":["Department of Statistics and Data Science, The Chinese University of Hong Kong, Shatin, New Territories , Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0002-5178-8470","affiliations":[{"raw_affiliation_string":"Department of Statistics and Data Science, The Chinese University of Hong Kong, Shatin, New Territories , Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I177725633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005418072","display_name":"Sheng Lian","orcid":"https://orcid.org/0000-0002-0773-8329"},"institutions":[{"id":"https://openalex.org/I200769079","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597","country_code":"HK","type":"education","lineage":["https://openalex.org/I200769079"]},{"id":"https://openalex.org/I889458895","display_name":"University of Hong Kong","ror":"https://ror.org/02zhqgq86","country_code":"HK","type":"education","lineage":["https://openalex.org/I889458895"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Sheng Lian","raw_affiliation_strings":["Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology, Clear Water Bay , Kowloon, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0002-0773-8329","affiliations":[{"raw_affiliation_string":"Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology, Clear Water Bay , Kowloon, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I200769079","https://openalex.org/I889458895"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100720503","display_name":"Zhen Zhang","orcid":"https://orcid.org/0000-0001-7905-7269"},"institutions":[{"id":"https://openalex.org/I200769079","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597","country_code":"HK","type":"education","lineage":["https://openalex.org/I200769079"]},{"id":"https://openalex.org/I889458895","display_name":"University of Hong Kong","ror":"https://ror.org/02zhqgq86","country_code":"HK","type":"education","lineage":["https://openalex.org/I889458895"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Zhen Zhang","raw_affiliation_strings":["Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology, Clear Water Bay , Kowloon, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0001-7905-7269","affiliations":[{"raw_affiliation_string":"Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology, Clear Water Bay , Kowloon, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I200769079","https://openalex.org/I889458895"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014548740","display_name":"Yongyi Luo","orcid":"https://orcid.org/0000-0002-0447-329X"},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Yongyi Luo","raw_affiliation_strings":["Department of Statistics and Data Science, The Chinese University of Hong Kong , Shatin, New Territories, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0002-0447-329X","affiliations":[{"raw_affiliation_string":"Department of Statistics and Data Science, The Chinese University of Hong Kong , Shatin, New Territories, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I177725633"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076440833","display_name":"Taobo Hu","orcid":"https://orcid.org/0000-0001-5124-7167"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]},{"id":"https://openalex.org/I4210124809","display_name":"Peking University People's Hospital","ror":"https://ror.org/035adwg89","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210124809"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Taobo Hu","raw_affiliation_strings":["Department of Breast Surgery, Peking University People\u2019s Hospital , No. 11, Xizhimen South Street, Xicheng District, Beijing, 100044,"],"raw_orcid":"https://orcid.org/0000-0001-5124-7167","affiliations":[{"raw_affiliation_string":"Department of Breast Surgery, Peking University People\u2019s Hospital , No. 11, Xizhimen South Street, Xicheng District, Beijing, 100044,","institution_ids":["https://openalex.org/I20231570","https://openalex.org/I4210124809"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051998558","display_name":"Toyotaka Ishibashi","orcid":"https://orcid.org/0000-0001-8015-2319"},"institutions":[{"id":"https://openalex.org/I200769079","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597","country_code":"HK","type":"education","lineage":["https://openalex.org/I200769079"]},{"id":"https://openalex.org/I889458895","display_name":"University of Hong Kong","ror":"https://ror.org/02zhqgq86","country_code":"HK","type":"education","lineage":["https://openalex.org/I889458895"]}],"countries":["HK"],"is_corresponding":false,"raw_author_name":"Toyotaka Ishibashi","raw_affiliation_strings":["Division of Life Science, Hong Kong University of Science and Technology, Clear Water Bay , Kowloon, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0001-8015-2319","affiliations":[{"raw_affiliation_string":"Division of Life Science, Hong Kong University of Science and Technology, Clear Water Bay , Kowloon, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I200769079","https://openalex.org/I889458895"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101952062","display_name":"Depeng Wang","orcid":"https://orcid.org/0000-0001-9014-710X"},"institutions":[{"id":"https://openalex.org/I4210086405","display_name":"National Institute of Biological Sciences, Beijing","ror":"https://ror.org/00wksha49","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210086405"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Depeng Wang","raw_affiliation_strings":["GrandOmics Inc, Zhongguancun Life Science Park, Changping District , Beijing, 102206,"],"raw_orcid":"https://orcid.org/0000-0001-9014-710X","affiliations":[{"raw_affiliation_string":"GrandOmics Inc, Zhongguancun Life Science Park, Changping District , Beijing, 102206,","institution_ids":["https://openalex.org/I4210086405"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100335473","display_name":"Shu Wang","orcid":"https://orcid.org/0000-0002-8651-4795"},"institutions":[{"id":"https://openalex.org/I20231570","display_name":"Peking University","ror":"https://ror.org/02v51f717","country_code":"CN","type":"education","lineage":["https://openalex.org/I20231570"]},{"id":"https://openalex.org/I4210124809","display_name":"Peking University People's Hospital","ror":"https://ror.org/035adwg89","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210124809"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Shu Wang","raw_affiliation_strings":["Department of Breast Surgery, Peking University People\u2019s Hospital , No. 11, Xizhimen South Street, Xicheng District, Beijing, 100044,"],"raw_orcid":"https://orcid.org/0000-0002-8651-4795","affiliations":[{"raw_affiliation_string":"Department of Breast Surgery, Peking University People\u2019s Hospital , No. 11, Xizhimen South Street, Xicheng District, Beijing, 100044,","institution_ids":["https://openalex.org/I20231570","https://openalex.org/I4210124809"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060018541","display_name":"Xiaodan Fan","orcid":"https://orcid.org/0000-0002-2744-9030"},"institutions":[{"id":"https://openalex.org/I177725633","display_name":"Chinese University of Hong Kong","ror":"https://ror.org/00t33hh48","country_code":"HK","type":"education","lineage":["https://openalex.org/I177725633"]}],"countries":["HK"],"is_corresponding":true,"raw_author_name":"Xiaodan Fan","raw_affiliation_strings":["Department of Statistics and Data Science, The Chinese University of Hong Kong, Shatin , New Territories, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0002-2744-9030","affiliations":[{"raw_affiliation_string":"Department of Statistics and Data Science, The Chinese University of Hong Kong, Shatin , New Territories, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I177725633"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5078798099","display_name":"Weichuan Yu","orcid":"https://orcid.org/0000-0002-5510-6916"},"institutions":[{"id":"https://openalex.org/I200769079","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597","country_code":"HK","type":"education","lineage":["https://openalex.org/I200769079"]},{"id":"https://openalex.org/I889458895","display_name":"University of Hong Kong","ror":"https://ror.org/02zhqgq86","country_code":"HK","type":"education","lineage":["https://openalex.org/I889458895"]}],"countries":["HK"],"is_corresponding":true,"raw_author_name":"Weichuan Yu","raw_affiliation_strings":["Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology , Clear Water Bay, Kowloon, Hong Kong SAR, 999077,"],"raw_orcid":"https://orcid.org/0000-0002-5510-6916","affiliations":[{"raw_affiliation_string":"Department of Electronic and Computer Engineering, Hong Kong University of Science and Technology , Clear Water Bay, Kowloon, Hong Kong SAR, 999077,","institution_ids":["https://openalex.org/I200769079","https://openalex.org/I889458895"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5060018541","https://openalex.org/A5078798099","https://openalex.org/A5100335473"],"corresponding_institution_ids":["https://openalex.org/I177725633","https://openalex.org/I200769079","https://openalex.org/I20231570","https://openalex.org/I4210124809","https://openalex.org/I889458895"],"apc_list":{"value":3885,"currency":"USD","value_usd":3885},"apc_paid":{"value":3885,"currency":"USD","value_usd":3885},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.56973022,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"27","issue":"3","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.4569999873638153,"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":0.4569999873638153,"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":0.3481999933719635,"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.08860000222921371,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/benchmarking","display_name":"Benchmarking","score":0.6772000193595886},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4837999939918518},{"id":"https://openalex.org/keywords/detector","display_name":"Detector","score":0.4523000121116638},{"id":"https://openalex.org/keywords/relevance","display_name":"Relevance (law)","score":0.3944000005722046},{"id":"https://openalex.org/keywords/sensitivity","display_name":"Sensitivity (control systems)","score":0.392300009727478},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.3817000091075897}],"concepts":[{"id":"https://openalex.org/C86251818","wikidata":"https://www.wikidata.org/wiki/Q816754","display_name":"Benchmarking","level":2,"score":0.6772000193595886},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6618000268936157},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.541100025177002},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4837999939918518},{"id":"https://openalex.org/C94915269","wikidata":"https://www.wikidata.org/wiki/Q1834857","display_name":"Detector","level":2,"score":0.4523000121116638},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.44190001487731934},{"id":"https://openalex.org/C158154518","wikidata":"https://www.wikidata.org/wiki/Q7310970","display_name":"Relevance (law)","level":2,"score":0.3944000005722046},{"id":"https://openalex.org/C21200559","wikidata":"https://www.wikidata.org/wiki/Q7451068","display_name":"Sensitivity (control systems)","level":2,"score":0.392300009727478},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.387800008058548},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.3817000091075897},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.37059998512268066},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.352400004863739},{"id":"https://openalex.org/C197077220","wikidata":"https://www.wikidata.org/wiki/Q720988","display_name":"Human genome","level":4,"score":0.28839999437332153},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.2822999954223633},{"id":"https://openalex.org/C2780586882","wikidata":"https://www.wikidata.org/wiki/Q7520643","display_name":"Simple (philosophy)","level":2,"score":0.2761000096797943},{"id":"https://openalex.org/C153180895","wikidata":"https://www.wikidata.org/wiki/Q7148389","display_name":"Pattern recognition (psychology)","level":2,"score":0.26190000772476196}],"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":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"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":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D045744","descriptor_name":"Cell Line, Tumor","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":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1093/bib/bbag294","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbag294","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:42281400","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42281400","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":"Briefings in bioinformatics","raw_type":"Journal Article"},{"id":"pmh:oai:repository.hkust.edu.hk:1783.1-172846","is_oa":false,"landing_page_url":"http://repository.hkust.edu.hk/ir/Record/1783.1-172846","pdf_url":null,"source":{"id":"https://openalex.org/S4306401796","display_name":"Rare & Special e-Zone (The Hong Kong University of Science and Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I200769079","host_organization_name":"Hong Kong University of Science and Technology","host_organization_lineage":["https://openalex.org/I200769079"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13256234","is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13256234/","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Brief Bioinform","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbag294","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbag294","pdf_url":null,"source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"is_oa":true,"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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G4061616151","display_name":null,"funder_award_id":"2021YFE0203200","funder_id":"https://openalex.org/F4320335777","funder_display_name":"National Key Research and Development Program of China"},{"id":"https://openalex.org/G6286649708","display_name":null,"funder_award_id":"OKT26EG06","funder_id":"https://openalex.org/F4320323537","funder_display_name":"Hong Kong University of Science and Technology"},{"id":"https://openalex.org/G7596374450","display_name":null,"funder_award_id":"Z1056","funder_id":"https://openalex.org/F4320323537","funder_display_name":"Hong Kong University of Science and Technology"},{"id":"https://openalex.org/G7630219550","display_name":null,"funder_award_id":"3030-009","funder_id":"https://openalex.org/F4320323537","funder_display_name":"Hong Kong University of Science and Technology"},{"id":"https://openalex.org/G8187902184","display_name":null,"funder_award_id":"BGF.001.2023","funder_id":"https://openalex.org/F4320323537","funder_display_name":"Hong Kong University of Science and Technology"},{"id":"https://openalex.org/G8629014936","display_name":null,"funder_award_id":"CSSET24SC01","funder_id":"https://openalex.org/F4320323537","funder_display_name":"Hong Kong University of Science and Technology"}],"funders":[{"id":"https://openalex.org/F4320323537","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597"},{"id":"https://openalex.org/F4320335777","display_name":"National Key Research and Development Program of China","ror":null}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W1984068087","https://openalex.org/W2001496424","https://openalex.org/W2051978340","https://openalex.org/W2059639989","https://openalex.org/W2104549677","https://openalex.org/W2165765309","https://openalex.org/W2165932662","https://openalex.org/W2582800429","https://openalex.org/W2589834155","https://openalex.org/W2789843538","https://openalex.org/W2950121474","https://openalex.org/W2951764279","https://openalex.org/W2980310926","https://openalex.org/W2992976869","https://openalex.org/W3034581902","https://openalex.org/W3046401484","https://openalex.org/W3088711112","https://openalex.org/W3131214786","https://openalex.org/W4213415369","https://openalex.org/W4295896785","https://openalex.org/W4312113735","https://openalex.org/W4313250582","https://openalex.org/W4317034776","https://openalex.org/W4317502116","https://openalex.org/W4376276278","https://openalex.org/W4390500910","https://openalex.org/W4413849635"],"related_works":[],"abstract_inverted_index":{"Structural":[0],"variants":[1],"(SVs)":[2],"are":[3,103],"major":[4],"contributors":[5],"to":[6,33],"genome":[7],"diversity":[8],"and":[9,35,65,114,125,138,200],"disease":[10],"susceptibility,":[11],"particularly":[12,135,155],"in":[13,149,156,197],"cancer.":[14],"Although":[15],"third-generation":[16],"sequencing":[17,117],"technologies":[18],"have":[19],"substantially":[20],"improved":[21,123],"SV":[22,60,90,133,140,147,195],"detection":[23,26,99,127],"sensitivity,":[24],"accurate":[25],"of":[27,44,100,164,169,181],"complex":[28,81,139,143],"SVs":[29,79,101],"remains":[30],"challenging":[31],"due":[32],"fragmented":[34],"heterogeneous":[36],"alignment":[37,84,144],"signals,":[38,96],"as":[39,41],"well":[40],"the":[42,69,98,160,175,179],"dependence":[43],"many":[45],"existing":[46],"methods":[47],"on":[48,77],"predefined":[49,87],"variant":[50,95],"models.":[51],"In":[52],"this":[53],"paper,":[54],"we":[55],"propose":[56],"gSV,":[57],"a":[58,170,190],"general":[59],"detector":[61],"that":[62,102,120],"integrates":[63],"alignment-based":[64],"assembly-based":[66],"approaches":[67],"with":[68,74,80,130,142],"maximum":[70],"exact":[71],"match":[72],"strategy,":[73],"particular":[75],"emphasis":[76],"resolving":[78],"or":[82],"atypical":[83],"signatures.":[85],"Without":[86],"assumptions":[88],"about":[89],"types,":[91],"gSV":[92,121,182,188],"captures":[93],"diverse":[94],"enabling":[97],"usually":[104],"missed":[105],"by":[106],"conventional":[107],"tools.":[108],"Benchmarking":[109],"using":[110],"both":[111,198],"simulated":[112],"datasets":[113],"real":[115],"long-read":[116],"data":[118],"demonstrates":[119],"achieves":[122],"sensitivity":[124],"overall":[126],"performance":[128],"compared":[129],"current":[131],"state-of-the-art":[132],"callers,":[134],"for":[136,183,193],"simple":[137],"events":[141],"patterns.":[145],"Unique":[146],"discoveries":[148],"four":[150],"breast":[151,171],"cancer":[152,172],"cell":[153],"lines,":[154],"cancer-associated":[157],"genes,":[158],"demonstrate":[159],"potential":[161],"biological":[162],"relevance":[163],"gSV-enabled":[165],"discoveries.":[166],"Furthermore,":[167],"analysis":[168],"cohort":[173],"from":[174],"Chinese":[176],"population":[177],"highlights":[178],"utility":[180],"population-scale":[184],"genomic":[185],"studies.":[186],"Collectively,":[187],"provides":[189],"unified":[191],"framework":[192],"comprehensive":[194],"discovery":[196],"research":[199],"clinical":[201],"genomics":[202],"settings.":[203]},"counts_by_year":[],"updated_date":"2026-08-21T09:56:20.448147","created_date":"2026-06-12T00:00:00"}