{"id":"https://openalex.org/W2160344363","doi":"https://doi.org/10.1093/nar/gks1213","title":"dbVar and DGVa: public archives for genomic structural variation","display_name":"dbVar and DGVa: public archives for genomic structural variation","publication_year":2012,"publication_date":"2012-11-26","ids":{"openalex":"https://openalex.org/W2160344363","doi":"https://doi.org/10.1093/nar/gks1213","mag":"2160344363","pmid":"https://pubmed.ncbi.nlm.nih.gov/23193291","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3531204"},"language":"en","primary_location":{"is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gks1213","pdf_url":"https://academic.oup.com/nar/article-pdf/41/D1/D936/3686260/gks1213.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/P4310311647","https://openalex.org/P4310311648"],"host_organization_lineage_names":["University of Oxford","Oxford University Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},"type":"article","type_crossref":"journal-article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/nar/article-pdf/41/D1/D936/3686260/gks1213.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5053057317","display_name":"Ilkka Lappalainen","orcid":"https://orcid.org/0000-0001-5762-893X"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Ilkka Lappalainen","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071971126","display_name":"John Lopez","orcid":null},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"John Lopez","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079389192","display_name":"Lisa Skipper","orcid":"https://orcid.org/0000-0002-1524-9787"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Lisa Skipper","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109960687","display_name":"Timothy Hefferon","orcid":null},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Timothy Hefferon","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038034890","display_name":"Dylan Spalding","orcid":"https://orcid.org/0000-0002-4285-2493"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"J. Dylan Spalding","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008794575","display_name":"John Garner","orcid":"https://orcid.org/0000-0003-0853-0279"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"John Garner","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100408358","display_name":"Chao Chen","orcid":"https://orcid.org/0000-0002-5114-2282"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Chao Chen","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110224737","display_name":"Michael E. Maguire","orcid":null},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Michael Maguire","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110883809","display_name":"Matt Corbett","orcid":null},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Matt Corbett","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086125770","display_name":"George Zhou","orcid":"https://orcid.org/0000-0002-1345-2634"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"George Zhou","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022629447","display_name":"Justin Paschall","orcid":null},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Justin Paschall","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051566526","display_name":"Victor Ananiev","orcid":null},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Victor Ananiev","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006816272","display_name":"Paul Flicek","orcid":"https://orcid.org/0000-0002-3897-7955"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":true,"raw_author_name":"Paul Flicek","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5089568820","display_name":"Deanna M. Church","orcid":"https://orcid.org/0000-0003-4264-1853"},"institutions":[{"id":"https://openalex.org/I4210109390","display_name":"National Center for Biotechnology Information","ror":"https://ror.org/02meqm098","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I2800548410","https://openalex.org/I4210109390"]},{"id":"https://openalex.org/I1303153112","display_name":"European Bioinformatics Institute","ror":"https://ror.org/02catss52","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1303153112","https://openalex.org/I4210138560"]}],"countries":["GB","US"],"is_corresponding":false,"raw_author_name":"Deanna M. Church","raw_affiliation_strings":["European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA"],"affiliations":[{"raw_affiliation_string":"European Bioinformatics Institute, Hinxton, CB10 1SD Cambridgeshire, UK and 2National Center for Biotechnology Information, Bethesda, 20894-6511 MD, USA","institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"]}]}],"institution_assertions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5006816272"],"corresponding_institution_ids":["https://openalex.org/I4210109390","https://openalex.org/I1303153112"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630,"provenance":"doaj"},"apc_paid":{"value":3630,"currency":"USD","value_usd":3630,"provenance":"doaj"},"fwci":5.482,"has_fulltext":true,"fulltext_origin":"pdf","cited_by_count":265,"citation_normalized_percentile":{"value":0.999985,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"41","issue":"D1","first_page":"D936","last_page":"D941"},"is_retracted":false,"is_paratext":false,"primary_topic":{"id":"https://openalex.org/T10885","display_name":"Gene expression and cancer classification","score":0.999,"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/T10885","display_name":"Gene expression and cancer classification","score":0.999,"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/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9984,"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":0.9981,"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/representation","display_name":"Representation","score":0.4941173},{"id":"https://openalex.org/keywords/external-data-representation","display_name":"External Data Representation","score":0.42594635}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8379796},{"id":"https://openalex.org/C169485995","wikidata":"https://www.wikidata.org/wiki/Q42283","display_name":"File Transfer Protocol","level":3,"score":0.6597767},{"id":"https://openalex.org/C2776359362","wikidata":"https://www.wikidata.org/wiki/Q2145286","display_name":"Representation (politics)","level":3,"score":0.4941173},{"id":"https://openalex.org/C116409475","wikidata":"https://www.wikidata.org/wiki/Q1385056","display_name":"External Data Representation","level":2,"score":0.42594635},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.3819494},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.35295957},{"id":"https://openalex.org/C110875604","wikidata":"https://www.wikidata.org/wiki/Q75","display_name":"The Internet","level":2,"score":0.29956442},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.24045378},{"id":"https://openalex.org/C94625758","wikidata":"https://www.wikidata.org/wiki/Q7163","display_name":"Politics","level":2,"score":0.0},{"id":"https://openalex.org/C17744445","wikidata":"https://www.wikidata.org/wiki/Q36442","display_name":"Political science","level":0,"score":0.0},{"id":"https://openalex.org/C199539241","wikidata":"https://www.wikidata.org/wiki/Q7748","display_name":"Law","level":1,"score":0.0},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D030561","descriptor_name":"Databases, Nucleic Acid","qualifier_ui":"","qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056914","descriptor_name":"Genomic Structural Variation","qualifier_ui":"","qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":"","qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":"","qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020407","descriptor_name":"Internet","qualifier_ui":"","qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":"","qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gks1213","pdf_url":"https://academic.oup.com/nar/article-pdf/41/D1/D936/3686260/gks1213.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/P4310311647","https://openalex.org/P4310311648"],"host_organization_lineage_names":["University of Oxford","Oxford University Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},{"is_oa":true,"landing_page_url":"https://europepmc.org/articles/pmc3531204","pdf_url":"https://europepmc.org/articles/pmc3531204?pdf=render","source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":["European Bioinformatics Institute"],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},{"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531204","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":["National Institutes of Health"],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true},{"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23193291","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":["National Institutes of Health"],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false}],"best_oa_location":{"is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/gks1213","pdf_url":"https://academic.oup.com/nar/article-pdf/41/D1/D936/3686260/gks1213.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/P4310311647","https://openalex.org/P4310311648"],"host_organization_lineage_names":["University of Oxford","Oxford University Press"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true},"sustainable_development_goals":[],"grants":[],"datasets":[],"versions":[],"referenced_works_count":23,"referenced_works":["https://openalex.org/W1699155395","https://openalex.org/W1989773675","https://openalex.org/W2048495389","https://openalex.org/W2051464954","https://openalex.org/W2052874938","https://openalex.org/W2083870688","https://openalex.org/W2088442470","https://openalex.org/W2096525273","https://openalex.org/W2104570606","https://openalex.org/W2106650442","https://openalex.org/W2107133912","https://openalex.org/W2110105653","https://openalex.org/W2116126626","https://openalex.org/W2118961319","https://openalex.org/W2120141270","https://openalex.org/W2123171788","https://openalex.org/W2126653569","https://openalex.org/W2137522370","https://openalex.org/W2167420962","https://openalex.org/W2171777347","https://openalex.org/W2885727518","https://openalex.org/W4210347168","https://openalex.org/W4231170962"],"related_works":["https://openalex.org/W4282930045","https://openalex.org/W4238546310","https://openalex.org/W2917844847","https://openalex.org/W2759085743","https://openalex.org/W2748952813","https://openalex.org/W2378353542","https://openalex.org/W2349516242","https://openalex.org/W2274312645","https://openalex.org/W2096451653","https://openalex.org/W2036757537"],"abstract_inverted_index":{"Much":[0],"has":[1],"changed":[2],"in":[3,39,91],"the":[4,26,67],"last":[5],"two":[6],"years":[7],"at":[8],"DGVa":[9],"(http://www.ebi.ac.uk/dgva)":[10],"and":[11,28,50,82,99],"dbVar":[12],"(http://www.ncbi.nlm.nih.gov/dbvar).":[13],"We":[14],"are":[15],"now":[16],"processing":[17,68],"direct":[18],"submissions":[19],"rather":[20],"than":[21],"only":[22],"curating":[23],"data":[24,34,47,78,83,96],"from":[25,35,43,48,63],"literature":[27],"our":[29,77],"joint":[30],"study":[31],"catalog":[32],"includes":[33],"over":[36],"100":[37],"studies":[38,61],"11":[40],"organisms.":[41],"Studies":[42],"human":[44],"dominate":[45],"with":[46],"control":[49],"case":[51],"populations,":[52],"tumor":[53],"samples":[54],"as":[55,57],"well":[56],"three":[58],"large":[59],"curated":[60],"derived":[62],"multiple":[64],"sources.":[65],"During":[66],"of":[69],"these":[70,95],"data,":[71],"we":[72,86],"have":[73,87],"made":[74,88],"improvements":[75,90],"to":[76,94],"model,":[79],"submission":[80],"process":[81],"representation.":[84],"Additionally,":[85],"significant":[89],"providing":[92],"access":[93],"via":[97],"web":[98],"FTP":[100],"interfaces.":[101]},"cited_by_api_url":"https://api.openalex.org/works?filter=cites:W2160344363","counts_by_year":[{"year":2024,"cited_by_count":17},{"year":2023,"cited_by_count":30},{"year":2022,"cited_by_count":32},{"year":2021,"cited_by_count":38},{"year":2020,"cited_by_count":24},{"year":2019,"cited_by_count":19},{"year":2018,"cited_by_count":22},{"year":2017,"cited_by_count":21},{"year":2016,"cited_by_count":16},{"year":2015,"cited_by_count":24},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":10},{"year":2012,"cited_by_count":1}],"updated_date":"2024-12-08T16:40:29.845019","created_date":"2016-06-24"}