{"id":"https://openalex.org/W3106653585","doi":"https://doi.org/10.1371/journal.pcbi.1008397","title":"Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions","display_name":"Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions","publication_year":2020,"publication_date":"2020-11-23","ids":{"openalex":"https://openalex.org/W3106653585","doi":"https://doi.org/10.1371/journal.pcbi.1008397","mag":"3106653585","pmid":"https://pubmed.ncbi.nlm.nih.gov/33226985"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pcbi.1008397","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1008397","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1008397&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1008397&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5026080988","display_name":"Riccha Sethi","orcid":"https://orcid.org/0000-0003-2948-9711"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Riccha Sethi","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":"https://orcid.org/0000-0003-2948-9711","affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062259878","display_name":"Julia Powers Becker","orcid":null},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Julia Becker","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111794450","display_name":"Jos de Graaf","orcid":null},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Jos de Graaf","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111467155","display_name":"Martin L\u00f6wer","orcid":null},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Martin L\u00f6wer","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084179202","display_name":"M Suchan","orcid":"https://orcid.org/0000-0001-6625-6162"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Martin Suchan","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":"https://orcid.org/0000-0001-6625-6162","affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075617216","display_name":"U\u011fur \u015eahin","orcid":"https://orcid.org/0000-0003-0363-1564"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Ugur Sahin","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","University Medical Center of the Johannes Gutenberg University, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"University Medical Center of the Johannes Gutenberg University, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5081468498","display_name":"David Weber","orcid":"https://orcid.org/0000-0001-9631-8459"},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"David Weber","raw_affiliation_strings":["TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany"],"raw_orcid":"https://orcid.org/0000-0001-9631-8459","affiliations":[{"raw_affiliation_string":"TRON-Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]},{"raw_affiliation_string":"TRON\u2014Translational Oncology at the University Medical Center of Johannes Gutenberg University Mainz gGmbH, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062","https://openalex.org/I197323543"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5026080988","https://openalex.org/A5062259878","https://openalex.org/A5075617216","https://openalex.org/A5081468498","https://openalex.org/A5084179202","https://openalex.org/A5111467155","https://openalex.org/A5111794450"],"corresponding_institution_ids":["https://openalex.org/I197323543","https://openalex.org/I4210094062"],"apc_list":{"value":2655,"currency":"USD","value_usd":2655},"apc_paid":{"value":2655,"currency":"USD","value_usd":2655},"fwci":0.418,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.61157226,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":98},"biblio":{"volume":"16","issue":"11","first_page":"e1008397","last_page":"e1008397"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9998000264167786,"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"}},"topics":[{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9998000264167786,"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/T11970","display_name":"Molecular Biology Techniques and Applications","score":0.9952999949455261,"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":0.9940000176429749,"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/false-discovery-rate","display_name":"False discovery rate","score":0.6744178533554077},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6441542506217957},{"id":"https://openalex.org/keywords/identification","display_name":"Identification (biology)","score":0.4903290569782257},{"id":"https://openalex.org/keywords/linkage","display_name":"Linkage (software)","score":0.4737585186958313},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.47375279664993286},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4562062919139862},{"id":"https://openalex.org/keywords/structural-variation","display_name":"Structural variation","score":0.4525056779384613},{"id":"https://openalex.org/keywords/sensitivity","display_name":"Sensitivity (control systems)","score":0.41987884044647217},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.371854305267334},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3449852466583252},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.3332493305206299},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.08686131238937378},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.06742694973945618}],"concepts":[{"id":"https://openalex.org/C193244246","wikidata":"https://www.wikidata.org/wiki/Q5432696","display_name":"False discovery rate","level":3,"score":0.6744178533554077},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6441542506217957},{"id":"https://openalex.org/C116834253","wikidata":"https://www.wikidata.org/wiki/Q2039217","display_name":"Identification (biology)","level":2,"score":0.4903290569782257},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.4737585186958313},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.47375279664993286},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4562062919139862},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.4525056779384613},{"id":"https://openalex.org/C21200559","wikidata":"https://www.wikidata.org/wiki/Q7451068","display_name":"Sensitivity (control systems)","level":2,"score":0.41987884044647217},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.371854305267334},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3449852466583252},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3332493305206299},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08686131238937378},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.06742694973945618},{"id":"https://openalex.org/C59822182","wikidata":"https://www.wikidata.org/wiki/Q441","display_name":"Botany","level":1,"score":0.0},{"id":"https://openalex.org/C24326235","wikidata":"https://www.wikidata.org/wiki/Q126095","display_name":"Electronic engineering","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D000073336","descriptor_name":"Whole Genome Sequencing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"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":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016015","descriptor_name":"Logistic Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016015","descriptor_name":"Logistic Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016015","descriptor_name":"Logistic Models","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","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":"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":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"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":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D030342","descriptor_name":"Genetic Diseases, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D058893","descriptor_name":"DNA Barcoding, Taxonomic","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058893","descriptor_name":"DNA Barcoding, Taxonomic","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058893","descriptor_name":"DNA Barcoding, Taxonomic","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D058893","descriptor_name":"DNA Barcoding, Taxonomic","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D058893","descriptor_name":"DNA Barcoding, Taxonomic","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D058893","descriptor_name":"DNA Barcoding, Taxonomic","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D061986","descriptor_name":"MCF-7 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061986","descriptor_name":"MCF-7 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D061986","descriptor_name":"MCF-7 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1371/journal.pcbi.1008397","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1008397","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1008397&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},{"id":"pmid:33226985","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33226985","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":"PLoS computational biology","raw_type":null},{"id":"pmh:oai:doaj.org/article:385d6945502c4e3f88ab319e32c94eff","is_oa":true,"landing_page_url":"https://doaj.org/article/385d6945502c4e3f88ab319e32c94eff","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":"PLoS Computational Biology, Vol 16, Iss 11, p e1008397 (2020)","raw_type":"article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7721175","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7721175","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":"PLoS Comput Biol","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1371/journal.pcbi.1008397","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pcbi.1008397","pdf_url":"https://journals.plos.org/ploscompbiol/article/file?id=10.1371/journal.pcbi.1008397&type=printable","source":{"id":"https://openalex.org/S86033158","display_name":"PLoS Computational Biology","issn_l":"1553-734X","issn":["1553-734X","1553-7358"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS Computational Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6399999856948853,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"awards":[{"id":"https://openalex.org/G6518404604","display_name":"Stepping Up mRNA Mutanome Immunotherapy","funder_award_id":"789256","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G6607259917","display_name":null,"funder_award_id":"ERC-AdG 789256","funder_id":"https://openalex.org/F4320338335","funder_display_name":"H2020 European Research Council"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320338335","display_name":"H2020 European Research Council","ror":"https://ror.org/0472cxd90"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3106653585.pdf","grobid_xml":"https://content.openalex.org/works/W3106653585.grobid-xml"},"referenced_works_count":37,"referenced_works":["https://openalex.org/W1791377616","https://openalex.org/W1912672559","https://openalex.org/W1968709543","https://openalex.org/W1980099549","https://openalex.org/W2041937775","https://openalex.org/W2046137036","https://openalex.org/W2074548625","https://openalex.org/W2089026391","https://openalex.org/W2102598575","https://openalex.org/W2103441770","https://openalex.org/W2108234281","https://openalex.org/W2111350087","https://openalex.org/W2132378736","https://openalex.org/W2132731072","https://openalex.org/W2146005104","https://openalex.org/W2264578395","https://openalex.org/W2339819569","https://openalex.org/W2346845651","https://openalex.org/W2582660596","https://openalex.org/W2589834155","https://openalex.org/W2661022803","https://openalex.org/W2747962788","https://openalex.org/W2768480287","https://openalex.org/W2794879929","https://openalex.org/W2807985734","https://openalex.org/W2914476644","https://openalex.org/W2948024819","https://openalex.org/W2948452166","https://openalex.org/W2949059287","https://openalex.org/W2949062400","https://openalex.org/W2950469833","https://openalex.org/W2950493549","https://openalex.org/W2950569192","https://openalex.org/W2950833487","https://openalex.org/W2952870794","https://openalex.org/W2963186762","https://openalex.org/W3032034316"],"related_works":["https://openalex.org/W2389124870","https://openalex.org/W1921844237","https://openalex.org/W2168149717","https://openalex.org/W200978175","https://openalex.org/W2178204436","https://openalex.org/W2113356685","https://openalex.org/W2043074282","https://openalex.org/W2203319208","https://openalex.org/W3193218983","https://openalex.org/W4306698144"],"abstract_inverted_index":{"Genetic":[0],"diseases":[1],"are":[2],"driven":[3],"by":[4,54,107,123,147],"aberrations":[5,13],"of":[6,11,56,79,85,99,104],"the":[7,60,109,125,158,169,193],"human":[8],"genome.":[9],"Identification":[10],"such":[12],"including":[14],"structural":[15],"variations":[16],"(SVs)":[17],"is":[18,88],"key":[19],"to":[20,32],"our":[21,163],"understanding.":[22],"Conventional":[23],"short-reads":[24,57],"whole":[25],"genome":[26],"sequencing":[27,49],"(cWGS)":[28],"can":[29,66,188],"identify":[30],"SVs":[31,105,120,144,167],"base-pair":[33],"resolution,":[34],"but":[35],"utilizes":[36,51],"only":[37,145],"short-range":[38],"information":[39,53],"and":[40,74,102,111,152,173,187],"suffers":[41],"from":[42,59,168],"high":[43,139,180],"false":[44],"discovery":[45],"rate":[46,132],"(FDR).":[47],"Linked-reads":[48],"(10XWGS)":[50],"long-range":[52],"linkage":[55],"originating":[58],"same":[61],"large":[62],"DNA":[63],"molecule.":[64],"This":[65,182],"mitigate":[67],"alignment-based":[68],"artefacts":[69],"especially":[70],"in":[71,191,196],"repetitive":[72],"regions":[73],"should":[75],"enable":[76],"better":[77],"prediction":[78,186],"SVs.":[80],"However,":[81],"an":[82,114],"unbiased":[83],"evaluation":[84],"this":[86,92],"technology":[87],"not":[89],"available.":[90],"In":[91],"study,":[93],"we":[94,165],"performed":[95],"a":[96,174],"comprehensive":[97],"analysis":[98],"different":[100],"types":[101],"sizes":[103],"predicted":[106],"both":[108,124,157],"technologies":[110,126,159],"validated":[112],"with":[113,179],"independent":[115],"PCR":[116],"based":[117],"approach.":[118],"The":[119],"commonly":[121],"identified":[122],"were":[127,160],"highly":[128],"specific,":[129],"while":[130],"validation":[131],"dropped":[133],"for":[134,143,156],"uncommon":[135],"events.":[136],"A":[137],"particularly":[138],"FDR":[140,151],"was":[141],"observed":[142],"found":[146],"10XWGS.":[148],"To":[149],"improve":[150],"sensitivity,":[153],"statistical":[154],"models":[155],"trained.":[161],"Using":[162],"approach,":[164],"characterized":[166],"MCF7":[170],"cell":[171],"line":[172],"primary":[175],"breast":[176],"cancer":[177],"tumor":[178],"precision.":[181],"approach":[183],"improves":[184],"SV":[185],"therefore":[189],"help":[190],"understanding":[192],"underlying":[194],"genetics":[195],"various":[197],"diseases.":[198]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":2}],"updated_date":"2026-04-25T08:17:42.794288","created_date":"2025-10-10T00:00:00"}