{"id":"https://openalex.org/W4225641618","doi":"https://doi.org/10.1093/nar/gkac318","title":"<tt>TADeus2</tt>: a\u00a0web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure","display_name":"<tt>TADeus2</tt>: a\u00a0web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure","publication_year":2022,"publication_date":"2022-04-21","ids":{"openalex":"https://openalex.org/W4225641618","doi":"https://doi.org/10.1093/nar/gkac318","pmid":"https://pubmed.ncbi.nlm.nih.gov/35524567"},"language":"en","primary_location":{"id":"doi:10.1093/nar/gkac318","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkac318","pdf_url":"https://academic.oup.com/nar/article-pdf/50/W1/W744/44377860/gkac318.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/50/W1/W744/44377860/gkac318.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033876070","display_name":"Barbara Poszewiecka","orcid":"https://orcid.org/0000-0002-9558-6504"},"institutions":[{"id":"https://openalex.org/I4654613","display_name":"University of Warsaw","ror":"https://ror.org/039bjqg32","country_code":"PL","type":"education","lineage":["https://openalex.org/I4654613"]}],"countries":["PL"],"is_corresponding":true,"raw_author_name":"Barbara Poszewiecka","raw_affiliation_strings":["Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw , 2 Banacha street, 02-097 Warsaw, Poland"],"affiliations":[{"raw_affiliation_string":"Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw , 2 Banacha street, 02-097 Warsaw, Poland","institution_ids":["https://openalex.org/I4654613"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083678532","display_name":"Victor Murcia Pienkowski","orcid":"https://orcid.org/0000-0002-1383-8019"},"institutions":[{"id":"https://openalex.org/I268303160","display_name":"Medical University of Warsaw","ror":"https://ror.org/04p2y4s44","country_code":"PL","type":"education","lineage":["https://openalex.org/I268303160"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4387155458","display_name":"Centre de G\u00e9n\u00e9tique M\u00e9dicale de Marseille","ror":"https://ror.org/01e4wd589","country_code":null,"type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I21491767","https://openalex.org/I4387155458"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]}],"countries":["FR","PL"],"is_corresponding":false,"raw_author_name":"Victor Murcia Pienkowski","raw_affiliation_strings":["Aix Marseille Univ, INSERM, Marseille Medical Genetics , MMG, Marseille, France","Department\u00a0of\u00a0Medical Genetics, Medical University of Warsaw , Adolfa Pawi\u0144skiego 3c, 02-106 Warsaw, Poland"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, Marseille Medical Genetics , MMG, Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488","https://openalex.org/I4387155458"]},{"raw_affiliation_string":"Department\u00a0of\u00a0Medical Genetics, Medical University of Warsaw , Adolfa Pawi\u0144skiego 3c, 02-106 Warsaw, Poland","institution_ids":["https://openalex.org/I268303160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072816427","display_name":"Karol Nowosad","orcid":"https://orcid.org/0000-0002-6000-9387"},"institutions":[{"id":"https://openalex.org/I4210134719","display_name":"Postgraduate School of Molecular Medicine","ror":"https://ror.org/03jgmfc14","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210134719"]},{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I268303160","display_name":"Medical University of Warsaw","ror":"https://ror.org/04p2y4s44","country_code":"PL","type":"education","lineage":["https://openalex.org/I268303160"]},{"id":"https://openalex.org/I4210091339","display_name":"Laboratory of Molecular Genetics","ror":"https://ror.org/00fwhek95","country_code":"PL","type":"facility","lineage":["https://openalex.org/I4210091339"]},{"id":"https://openalex.org/I121032520","display_name":"Medical University of Lublin","ror":"https://ror.org/016f61126","country_code":"PL","type":"education","lineage":["https://openalex.org/I121032520"]}],"countries":["NL","PL"],"is_corresponding":false,"raw_author_name":"Karol Nowosad","raw_affiliation_strings":["Department\u00a0of\u00a0Biomedical Sciences, Laboratory of Molecular Genetics, Medical University of Lublin , Doktora Witolda Chod\u017aki 1, 20-400 Lublin, Poland","Department\u00a0of\u00a0Cell\u00a0Biology, Erasmus Medical Center , Doctor Molewaterplein 40, 3015 GD Rotterdam, Netherlands","The\u00a0Postgraduate\u00a0School of Molecular Medicine, Medical University of Warsaw , \u017bwirki\u00a0i\u00a0Wigury 61, 02-091 Warsaw, Poland"],"affiliations":[{"raw_affiliation_string":"Department\u00a0of\u00a0Biomedical Sciences, Laboratory of Molecular Genetics, Medical University of Lublin , Doktora Witolda Chod\u017aki 1, 20-400 Lublin, Poland","institution_ids":["https://openalex.org/I121032520","https://openalex.org/I4210091339"]},{"raw_affiliation_string":"Department\u00a0of\u00a0Cell\u00a0Biology, Erasmus Medical Center , Doctor Molewaterplein 40, 3015 GD Rotterdam, Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"The\u00a0Postgraduate\u00a0School of Molecular Medicine, Medical University of Warsaw , \u017bwirki\u00a0i\u00a0Wigury 61, 02-091 Warsaw, Poland","institution_ids":["https://openalex.org/I4210134719","https://openalex.org/I268303160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071959314","display_name":"J\u00e9r\u00f4me D. Robin","orcid":"https://orcid.org/0000-0001-5865-8372"},"institutions":[{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4387155458","display_name":"Centre de G\u00e9n\u00e9tique M\u00e9dicale de Marseille","ror":"https://ror.org/01e4wd589","country_code":null,"type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I21491767","https://openalex.org/I4387155458"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J\u00e9r\u00f4me\u00a0D Robin","raw_affiliation_strings":["Aix Marseille Univ, INSERM, Marseille Medical Genetics , MMG, Marseille, France"],"affiliations":[{"raw_affiliation_string":"Aix Marseille Univ, INSERM, Marseille Medical Genetics , MMG, Marseille, France","institution_ids":["https://openalex.org/I21491767","https://openalex.org/I154526488","https://openalex.org/I4387155458"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079773178","display_name":"Krzysztof Gogolewski","orcid":"https://orcid.org/0000-0001-5523-5198"},"institutions":[{"id":"https://openalex.org/I4654613","display_name":"University of Warsaw","ror":"https://ror.org/039bjqg32","country_code":"PL","type":"education","lineage":["https://openalex.org/I4654613"]}],"countries":["PL"],"is_corresponding":false,"raw_author_name":"Krzysztof Gogolewski","raw_affiliation_strings":["Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw , 2 Banacha street, 02-097 Warsaw, Poland"],"affiliations":[{"raw_affiliation_string":"Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw , 2 Banacha street, 02-097 Warsaw, Poland","institution_ids":["https://openalex.org/I4654613"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071617273","display_name":"Anna Gambin","orcid":"https://orcid.org/0000-0003-3476-3017"},"institutions":[{"id":"https://openalex.org/I4654613","display_name":"University of Warsaw","ror":"https://ror.org/039bjqg32","country_code":"PL","type":"education","lineage":["https://openalex.org/I4654613"]}],"countries":["PL"],"is_corresponding":true,"raw_author_name":"Anna Gambin","raw_affiliation_strings":["Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw , 2 Banacha street, 02-097 Warsaw, Poland"],"affiliations":[{"raw_affiliation_string":"Faculty of Mathematics, Informatics, and Mechanics, University of Warsaw , 2 Banacha street, 02-097 Warsaw, Poland","institution_ids":["https://openalex.org/I4654613"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5033876070","https://openalex.org/A5071617273"],"corresponding_institution_ids":["https://openalex.org/I4654613"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630},"fwci":1.0399,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.74491353,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":99},"biblio":{"volume":"50","issue":"W1","first_page":"W744","last_page":"W752"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9998999834060669,"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/T10222","display_name":"Genomics and Chromatin Dynamics","score":0.9998999834060669,"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":0.9994999766349792,"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":0.9980999827384949,"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/chromatin","display_name":"Chromatin","score":0.8139752745628357},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.7928602695465088},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.6750692129135132},{"id":"https://openalex.org/keywords/breakpoint","display_name":"Breakpoint","score":0.5847980976104736},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.5568464994430542},{"id":"https://openalex.org/keywords/web-server","display_name":"Web server","score":0.5005407333374023},{"id":"https://openalex.org/keywords/pathogenicity","display_name":"Pathogenicity","score":0.4811350405216217},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4518451690673828},{"id":"https://openalex.org/keywords/coding","display_name":"Coding (social sciences)","score":0.4500475525856018},{"id":"https://openalex.org/keywords/dna","display_name":"DNA","score":0.37450671195983887},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.27572864294052124},{"id":"https://openalex.org/keywords/the-internet","display_name":"The Internet","score":0.15348225831985474},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.1256757378578186},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1100197434425354},{"id":"https://openalex.org/keywords/chromosome","display_name":"Chromosome","score":0.10646110773086548}],"concepts":[{"id":"https://openalex.org/C83640560","wikidata":"https://www.wikidata.org/wiki/Q180951","display_name":"Chromatin","level":3,"score":0.8139752745628357},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7928602695465088},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.6750692129135132},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.5847980976104736},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.5568464994430542},{"id":"https://openalex.org/C11392498","wikidata":"https://www.wikidata.org/wiki/Q11288","display_name":"Web server","level":3,"score":0.5005407333374023},{"id":"https://openalex.org/C64502627","wikidata":"https://www.wikidata.org/wiki/Q170065","display_name":"Pathogenicity","level":2,"score":0.4811350405216217},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4518451690673828},{"id":"https://openalex.org/C179518139","wikidata":"https://www.wikidata.org/wiki/Q5140297","display_name":"Coding (social sciences)","level":2,"score":0.4500475525856018},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.37450671195983887},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.27572864294052124},{"id":"https://openalex.org/C110875604","wikidata":"https://www.wikidata.org/wiki/Q75","display_name":"The Internet","level":2,"score":0.15348225831985474},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.1256757378578186},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1100197434425354},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.10646110773086548},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.0},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.0},{"id":"https://openalex.org/C89423630","wikidata":"https://www.wikidata.org/wiki/Q7193","display_name":"Microbiology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002843","descriptor_name":"Chromatin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002843","descriptor_name":"Chromatin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002843","descriptor_name":"Chromatin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002875","descriptor_name":"Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002875","descriptor_name":"Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002875","descriptor_name":"Chromosomes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"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}],"locations_count":5,"locations":[{"id":"doi:10.1093/nar/gkac318","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkac318","pdf_url":"https://academic.oup.com/nar/article-pdf/50/W1/W744/44377860/gkac318.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmid:35524567","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35524567","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":"Nucleic acids research","raw_type":null},{"id":"pmh:eur:oai:pure.eur.nl:publications/c29e2c01-a3aa-4cc1-bfef-0620ef75e4c3","is_oa":true,"landing_page_url":"https://pure.eur.nl/en/publications/c29e2c01-a3aa-4cc1-bfef-0620ef75e4c3","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 50(W1), W744 - W752. Oxford University Press","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:HAL:hal-03780230v1","is_oa":false,"landing_page_url":"https://amu.hal.science/hal-03780230","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL (Le Centre pour la Communication Scientifique Directe)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1294671590","host_organization_name":"Centre National de la Recherche Scientifique","host_organization_lineage":["https://openalex.org/I1294671590"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Research, 2022, 50 (W1), pp.W744-W752. &#x27E8;10.1093/nar/gkac318&#x27E9;","raw_type":"Journal articles"},{"id":"pmh:oai:pubmedcentral.nih.gov:9252839","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9252839","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Nucleic Acids Res","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/nar/gkac318","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gkac318","pdf_url":"https://academic.oup.com/nar/article-pdf/50/W1/W744/44377860/gkac318.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G2609617543","display_name":null,"funder_award_id":"NCN 2019/33/N/ST6/03110","funder_id":"https://openalex.org/F4320322511","funder_display_name":"Narodowe Centrum Nauki"},{"id":"https://openalex.org/G2860112783","display_name":null,"funder_award_id":"NCN 2018/30/M/NZ2/00054","funder_id":"https://openalex.org/F4320322511","funder_display_name":"Narodowe Centrum Nauki"}],"funders":[{"id":"https://openalex.org/F4320321042","display_name":"Fundacja na rzecz Nauki Polskiej","ror":"https://ror.org/048zd9m77"},{"id":"https://openalex.org/F4320322511","display_name":"Narodowe Centrum Nauki","ror":"https://ror.org/03ha2q922"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4225641618.pdf","grobid_xml":"https://content.openalex.org/works/W4225641618.grobid-xml"},"referenced_works_count":57,"referenced_works":["https://openalex.org/W103354482","https://openalex.org/W1644197353","https://openalex.org/W1810761522","https://openalex.org/W1859117663","https://openalex.org/W1865845132","https://openalex.org/W1964963969","https://openalex.org/W1970640134","https://openalex.org/W1970977879","https://openalex.org/W2006639875","https://openalex.org/W2007371217","https://openalex.org/W2032695182","https://openalex.org/W2036841261","https://openalex.org/W2070021921","https://openalex.org/W2079588819","https://openalex.org/W2082534286","https://openalex.org/W2083854815","https://openalex.org/W2084430205","https://openalex.org/W2087265881","https://openalex.org/W2090791264","https://openalex.org/W2119412782","https://openalex.org/W2122971055","https://openalex.org/W2135144225","https://openalex.org/W2141307855","https://openalex.org/W2141391097","https://openalex.org/W2150417477","https://openalex.org/W2165800754","https://openalex.org/W2166680806","https://openalex.org/W2169500338","https://openalex.org/W2493763501","https://openalex.org/W2528263447","https://openalex.org/W2531349095","https://openalex.org/W2557385283","https://openalex.org/W2617530335","https://openalex.org/W2738559880","https://openalex.org/W2766707799","https://openalex.org/W2770026599","https://openalex.org/W2781333425","https://openalex.org/W2888425844","https://openalex.org/W2895807673","https://openalex.org/W2913712331","https://openalex.org/W2951031568","https://openalex.org/W2951322997","https://openalex.org/W2951856336","https://openalex.org/W2955816935","https://openalex.org/W2980407838","https://openalex.org/W2983742483","https://openalex.org/W2991016899","https://openalex.org/W2992741119","https://openalex.org/W3020161954","https://openalex.org/W3029661147","https://openalex.org/W3087433133","https://openalex.org/W3088122047","https://openalex.org/W3092624702","https://openalex.org/W3107797479","https://openalex.org/W3135072270","https://openalex.org/W3136271807","https://openalex.org/W4214506868"],"related_works":["https://openalex.org/W2036289360","https://openalex.org/W2003824598","https://openalex.org/W2606481030","https://openalex.org/W2123012074","https://openalex.org/W1979375946","https://openalex.org/W2117117412","https://openalex.org/W2102889349","https://openalex.org/W2067409815","https://openalex.org/W2034155503","https://openalex.org/W1975941837"],"abstract_inverted_index":{"In":[0],"recent":[1],"years":[2],"great":[3],"progress":[4],"has":[5],"been":[6],"made":[7],"in":[8,14,25,35,91],"identification":[9],"of":[10,21,31,38,63,74,88,113],"structural":[11],"variants":[12],"(SV)":[13],"the":[15,19,32,36,47,72,107,111,122,126],"human":[16],"genome.":[17],"However,":[18],"interpretation":[20,73],"SVs,":[22,89],"especially":[23],"located":[24],"non-coding":[26],"DNA,":[27],"remains":[28],"challenging.":[29],"One":[30],"reasons":[33],"stems":[34],"lack":[37],"tools":[39,136],"exclusively":[40],"designed":[41],"for":[42,59,71],"clinical":[43],"SVs":[44,75,115,127],"evaluation":[45],"acknowledging":[46],"3D":[48],"chromatin":[49,64],"architecture.":[50],"Therefore,":[51],"we":[52],"present":[53],"TADeus2":[54,105,140],"a":[55,60,68,84,92,100],"web":[56],"server":[57],"dedicated":[58],"quick":[61],"investigation":[62],"conformation":[65],"changes,":[66],"providing":[67],"visual":[69,86],"framework":[70],"affecting":[76],"topologically":[77],"associating":[78],"domains":[79],"(TADs).":[80],"This":[81],"tool":[82],"provides":[83],"convenient":[85],"inspection":[87],"both":[90],"continuous":[93],"genome":[94],"view":[95],"as":[96,98],"well":[97],"from":[99],"rearrangement's":[101],"breakpoint":[102],"perspective.":[103],"Additionally,":[104],"allows":[106],"user":[108],"to":[109],"assess":[110],"influence":[112],"analyzed":[114],"within":[116],"flaking":[117],"coding/non-coding":[118],"regions":[119],"based":[120],"on":[121],"Hi-C":[123],"matrix.":[124],"Importantly,":[125],"pathogenicity":[128],"is":[129,141],"quantified":[130],"and":[131,137],"ranked":[132],"using":[133],"TADA,":[134],"ClassifyCNV":[135],"sampling-based":[138],"P-value.":[139],"publicly":[142],"available":[143],"at":[144],"https://tadeus2.mimuw.edu.pl.":[145]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4}],"updated_date":"2026-03-20T23:20:44.827607","created_date":"2022-05-05T00:00:00"}