{"id":"https://openalex.org/W2587470326","doi":"https://doi.org/10.1093/bioinformatics/btx020","title":"Genotyping inversions and tandem duplications","display_name":"Genotyping inversions and tandem duplications","publication_year":2017,"publication_date":"2017-01-30","ids":{"openalex":"https://openalex.org/W2587470326","doi":"https://doi.org/10.1093/bioinformatics/btx020","mag":"2587470326","pmid":"https://pubmed.ncbi.nlm.nih.gov/28169394"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btx020","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx020","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/24/4015/25168434/btx020.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/33/24/4015/25168434/btx020.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5077819335","display_name":"Jana Ebler","orcid":"https://orcid.org/0000-0002-0382-3702"},"institutions":[{"id":"https://openalex.org/I91712215","display_name":"Saarland University","ror":"https://ror.org/01jdpyv68","country_code":"DE","type":"education","lineage":["https://openalex.org/I91712215"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Jana Ebler","raw_affiliation_strings":["Center for Bioinformatics, Saarland University, Saarbr\u00fccken, Germany"],"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Saarland University, Saarbr\u00fccken, Germany","institution_ids":["https://openalex.org/I91712215"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001148638","display_name":"Alexander Sch\u00f6nhuth","orcid":"https://orcid.org/0000-0003-3529-0856"},"institutions":[{"id":"https://openalex.org/I1341640284","display_name":"Centrum Wiskunde & Informatica","ror":"https://ror.org/00x7ekv49","country_code":"NL","type":"facility","lineage":["https://openalex.org/I1341640284","https://openalex.org/I2800991832"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Alexander Sch\u00f6nhuth","raw_affiliation_strings":["Life Sciences Group, Centrum Wiskunde and Informatica, Amsterdam, The Netherlands"],"affiliations":[{"raw_affiliation_string":"Life Sciences Group, Centrum Wiskunde and Informatica, Amsterdam, The Netherlands","institution_ids":["https://openalex.org/I1341640284"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5067570776","display_name":"Tobias Marschall","orcid":"https://orcid.org/0000-0002-9376-1030"},"institutions":[{"id":"https://openalex.org/I91712215","display_name":"Saarland University","ror":"https://ror.org/01jdpyv68","country_code":"DE","type":"education","lineage":["https://openalex.org/I91712215"]},{"id":"https://openalex.org/I4210109712","display_name":"Max Planck Institute for Informatics","ror":"https://ror.org/01w19ak89","country_code":"DE","type":"facility","lineage":["https://openalex.org/I149899117","https://openalex.org/I4210109712"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Tobias Marschall","raw_affiliation_strings":["Center for Bioinformatics, Saarland University, Saarbr\u00fccken, Germany","Department for Computational Biology and Applied Algorithmics, Max Planck Institute for Informatics, Saarbr\u00fccken, Germany"],"affiliations":[{"raw_affiliation_string":"Center for Bioinformatics, Saarland University, Saarbr\u00fccken, Germany","institution_ids":["https://openalex.org/I91712215"]},{"raw_affiliation_string":"Department for Computational Biology and Applied Algorithmics, Max Planck Institute for Informatics, Saarbr\u00fccken, Germany","institution_ids":["https://openalex.org/I4210109712"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5067570776"],"corresponding_institution_ids":["https://openalex.org/I4210109712","https://openalex.org/I91712215"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":0.5613,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.6534783,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"33","issue":"24","first_page":"4015","last_page":"4023"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9994999766349792,"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":0.9994999766349792,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9927999973297119,"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/genotyping","display_name":"Genotyping","score":0.8779556155204773},{"id":"https://openalex.org/keywords/breakpoint","display_name":"Breakpoint","score":0.6754320859909058},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.675051212310791},{"id":"https://openalex.org/keywords/structural-variation","display_name":"Structural variation","score":0.613231360912323},{"id":"https://openalex.org/keywords/gene-duplication","display_name":"Gene duplication","score":0.5969986319541931},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5240857005119324},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4825946092605591},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.4663856029510498},{"id":"https://openalex.org/keywords/copy-number-variation","display_name":"Copy-number variation","score":0.45749127864837646},{"id":"https://openalex.org/keywords/typing","display_name":"Typing","score":0.449611634016037},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.41899916529655457},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.1459643840789795},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1355525553226471}],"concepts":[{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.8779556155204773},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.6754320859909058},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.675051212310791},{"id":"https://openalex.org/C151020129","wikidata":"https://www.wikidata.org/wiki/Q7625067","display_name":"Structural variation","level":4,"score":0.613231360912323},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.5969986319541931},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5240857005119324},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4825946092605591},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4663856029510498},{"id":"https://openalex.org/C120821319","wikidata":"https://www.wikidata.org/wiki/Q1501491","display_name":"Copy-number variation","level":4,"score":0.45749127864837646},{"id":"https://openalex.org/C2781209916","wikidata":"https://www.wikidata.org/wiki/Q3215756","display_name":"Typing","level":2,"score":0.449611634016037},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.41899916529655457},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.1459643840789795},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1355525553226471},{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D007446","descriptor_name":"Chromosome Inversion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D007446","descriptor_name":"Chromosome Inversion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D007446","descriptor_name":"Chromosome Inversion","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":false},{"descriptor_ui":"D012984","descriptor_name":"Software","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":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","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":"D058674","descriptor_name":"Chromosome Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058674","descriptor_name":"Chromosome Duplication","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058674","descriptor_name":"Chromosome Duplication","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},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D060005","descriptor_name":"Genotyping Techniques","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1093/bioinformatics/btx020","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx020","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/24/4015/25168434/btx020.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:28169394","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28169394","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:cwi.nl:26749","is_oa":true,"landing_page_url":"https://ir.cwi.nl/pub/26749","pdf_url":"https://ir.cwi.nl/pub/26749/26749.pdf","source":{"id":"https://openalex.org/S7407055335","display_name":"Centrum Wiskunde & Informatica (CWI), the national research institute for mathematics and computer science in the Netherlands","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":"Bioinformatics vol. 33 no. 24, pp. 4015-4023","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:escidoc.org:escidoc:2383670","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-002C-468F-7","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":[],"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":"info:eu-repo/semantics/article"},{"id":"pmh:oai:escidoc.org:escidoc:2383812","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-002C-47FD-9","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":[],"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":"info:eu-repo/semantics/other"},{"id":"pmh:oai:pub.uni-bielefeld.de:2941786","is_oa":false,"landing_page_url":"https://pub.uni-bielefeld.de/record/2941786","pdf_url":null,"source":{"id":"https://openalex.org/S4306401670","display_name":"PUB \u2013 Publications at Bielefeld University (Bielefeld University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I20121455","host_organization_name":"Bielefeld University","host_organization_lineage":["https://openalex.org/I20121455"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Ebler J, Sch\u00f6nhuth A, Marschall T. Genotyping inversions and tandem duplications. &lt;em&gt;Bioinformatics&lt;/em&gt;. 2017;33(24):4015-4023.","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btx020","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btx020","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/24/4015/25168434/btx020.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G629491556","display_name":null,"funder_award_id":"(NWO)","funder_id":"https://openalex.org/F4320321800","funder_display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek"},{"id":"https://openalex.org/G7299646936","display_name":null,"funder_award_id":"639.072.309","funder_id":"https://openalex.org/F4320321800","funder_display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek"}],"funders":[{"id":"https://openalex.org/F4320321800","display_name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","ror":"https://ror.org/04jsz6e67"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2587470326.pdf","grobid_xml":"https://content.openalex.org/works/W2587470326.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W1907868928","https://openalex.org/W2010361633","https://openalex.org/W2034529122","https://openalex.org/W2042838021","https://openalex.org/W2056571985","https://openalex.org/W2057236019","https://openalex.org/W2060965924","https://openalex.org/W2103441770","https://openalex.org/W2104549677","https://openalex.org/W2107830007","https://openalex.org/W2108234281","https://openalex.org/W2111350087","https://openalex.org/W2132378736","https://openalex.org/W2132731072","https://openalex.org/W2135361281","https://openalex.org/W2143307936","https://openalex.org/W2146005104","https://openalex.org/W2152956782","https://openalex.org/W2154397429","https://openalex.org/W2161901637","https://openalex.org/W2163549019","https://openalex.org/W2168133698","https://openalex.org/W2528792175"],"related_works":["https://openalex.org/W1554401503","https://openalex.org/W2081420039","https://openalex.org/W2093773491","https://openalex.org/W2028976524","https://openalex.org/W2161263170","https://openalex.org/W3165689115","https://openalex.org/W2108754964","https://openalex.org/W4280645807","https://openalex.org/W4361892629","https://openalex.org/W3134412476"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1}],"updated_date":"2026-04-10T15:06:20.359241","created_date":"2025-10-10T00:00:00"}
