{"id":"https://openalex.org/W4361974367","doi":"https://doi.org/10.1093/database/baad017","title":"Assessing the use of supplementary materials to improve genomic variant discovery","display_name":"Assessing the use of supplementary materials to improve genomic variant discovery","publication_year":2023,"publication_date":"2023-01-01","ids":{"openalex":"https://openalex.org/W4361974367","doi":"https://doi.org/10.1093/database/baad017","pmid":"https://pubmed.ncbi.nlm.nih.gov/37002680"},"language":"en","primary_location":{"id":"doi:10.1093/database/baad017","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baad017","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baad017/49720382/baad017.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database","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/database/article-pdf/doi/10.1093/database/baad017/49720382/baad017.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017034341","display_name":"Emilie Pasche","orcid":"https://orcid.org/0000-0002-9118-5762"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":true,"raw_author_name":"Emilie Pasche","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":"https://orcid.org/0000-0002-9118-5762","affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076116299","display_name":"Ana\u00efs Mottaz","orcid":"https://orcid.org/0000-0003-0080-9451"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Ana\u00efs Mottaz","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":"https://orcid.org/0000-0003-0080-9451","affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091440467","display_name":"Julien Gobeill","orcid":"https://orcid.org/0000-0001-9809-7741"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Julien Gobeill","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":"https://orcid.org/0000-0001-9809-7741","affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086411804","display_name":"Pierre-Andr\u00e9 Michel","orcid":"https://orcid.org/0000-0002-7023-1045"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Pierre-Andr\u00e9 Michel","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048045923","display_name":"D\u00e9borah Caucheteur","orcid":"https://orcid.org/0000-0003-0800-544X"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"D\u00e9borah Caucheteur","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":"https://orcid.org/0000-0003-0800-544X","affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069421871","display_name":"Nona Naderi","orcid":"https://orcid.org/0000-0002-1272-7640"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":false,"raw_author_name":"Nona Naderi","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":"https://orcid.org/0000-0002-1272-7640","affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042384742","display_name":"Patrick Ruch","orcid":"https://orcid.org/0000-0002-3374-2962"},"institutions":[{"id":"https://openalex.org/I12708293","display_name":"SIB Swiss Institute of Bioinformatics","ror":"https://ror.org/002n09z45","country_code":"CH","type":"nonprofit","lineage":["https://openalex.org/I12708293"]},{"id":"https://openalex.org/I4210088449","display_name":"HES-SO Gen\u00e8ve","ror":"https://ror.org/007gfwn20","country_code":"CH","type":"education","lineage":["https://openalex.org/I173439891","https://openalex.org/I4210088449"]}],"countries":["CH"],"is_corresponding":true,"raw_author_name":"Patrick Ruch","raw_affiliation_strings":["BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland"],"raw_orcid":"https://orcid.org/0000-0002-3374-2962","affiliations":[{"raw_affiliation_string":"BiTeM Group, Information Sciences, HES-SO/HEG Geneva , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I4210088449"]},{"raw_affiliation_string":"SIB Text Mining Group, Swiss Institute of Bioinformatics , rue de la Tambourine 17, Geneva, Carouge 1227, Switzerland","institution_ids":["https://openalex.org/I12708293"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5017034341","https://openalex.org/A5042384742"],"corresponding_institution_ids":["https://openalex.org/I12708293","https://openalex.org/I4210088449"],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":0.8722,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.73848406,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"2023","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10015","display_name":"Genomics and Phylogenetic Studies","score":0.9991000294685364,"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":0.9991000294685364,"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":0.9947999715805054,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.9900000095367432,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.6830799579620361},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6557774543762207},{"id":"https://openalex.org/keywords/data-curation","display_name":"Data curation","score":0.4829122722148895},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.4811500310897827},{"id":"https://openalex.org/keywords/scientific-literature","display_name":"Scientific literature","score":0.44152534008026123},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.3668869733810425},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.35669171810150146},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.19266393780708313}],"concepts":[{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.6830799579620361},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6557774543762207},{"id":"https://openalex.org/C91632574","wikidata":"https://www.wikidata.org/wiki/Q15088675","display_name":"Data curation","level":2,"score":0.4829122722148895},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.4811500310897827},{"id":"https://openalex.org/C2781083858","wikidata":"https://www.wikidata.org/wiki/Q17327049","display_name":"Scientific literature","level":2,"score":0.44152534008026123},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.3668869733810425},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.35669171810150146},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19266393780708313},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D023281","descriptor_name":"Genomics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057386","descriptor_name":"Search Engine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057386","descriptor_name":"Search Engine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057386","descriptor_name":"Search Engine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1093/database/baad017","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baad017","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baad017/49720382/baad017.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database","raw_type":"journal-article"},{"id":"pmid:37002680","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/37002680","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":"Database : the journal of biological databases and curation","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:10066029","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10066029","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10066029/pdf/baad017.pdf","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":"Database (Oxford)","raw_type":"Text"},{"id":"pmh:oai:HAL:hal-04351842v1","is_oa":false,"landing_page_url":"https://universite-paris-saclay.hal.science/hal-04351842","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":"Database - The journal of Biological Databases and Curation, 2023, 2023, ⟨10.1093/database/baad017⟩","raw_type":"Journal articles"},{"id":"pmh:oai:hesso.tind.io:12210","is_oa":false,"landing_page_url":"http://arodes.hes-so.ch/record/12210","pdf_url":null,"source":{"id":"https://openalex.org/S4306402432","display_name":"ArODES (HES-SO (https://www.hes-so.ch/))","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I4210088449","host_organization_name":"HES-SO Gen\u00e8ve","host_organization_lineage":["https://openalex.org/I4210088449"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://arodes.hes-so.ch/record/12210","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/database/baad017","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baad017","pdf_url":"https://academic.oup.com/database/article-pdf/doi/10.1093/database/baad017/49720382/baad017.pdf","source":{"id":"https://openalex.org/S4210201630","display_name":"Database","issn_l":"1758-0463","issn":["1758-0463"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311647","host_organization_name":"University of Oxford","host_organization_lineage":["https://openalex.org/P4310311647"],"host_organization_lineage_names":["University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Database","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.6299999952316284,"id":"https://metadata.un.org/sdg/9","display_name":"Industry, innovation and infrastructure"}],"awards":[{"id":"https://openalex.org/G168414122","display_name":null,"funder_award_id":"825775","funder_id":"https://openalex.org/F4320320300","funder_display_name":"European Commission"},{"id":"https://openalex.org/G6998528659","display_name":null,"funder_award_id":"825775","funder_id":"https://openalex.org/F4320332999","funder_display_name":"Horizon 2020 Framework Programme"}],"funders":[{"id":"https://openalex.org/F4320320300","display_name":"European Commission","ror":"https://ror.org/00k4n6c32"},{"id":"https://openalex.org/F4320332999","display_name":"Horizon 2020 Framework Programme","ror":"https://ror.org/00k4n6c32"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4361974367.pdf"},"referenced_works_count":25,"referenced_works":["https://openalex.org/W2001642682","https://openalex.org/W2051978340","https://openalex.org/W2059600528","https://openalex.org/W2091940856","https://openalex.org/W2120564292","https://openalex.org/W2128863362","https://openalex.org/W2566723262","https://openalex.org/W2614443510","https://openalex.org/W2752636837","https://openalex.org/W2770026599","https://openalex.org/W2785664611","https://openalex.org/W2898789672","https://openalex.org/W2905840501","https://openalex.org/W2964023798","https://openalex.org/W3003257820","https://openalex.org/W3023596762","https://openalex.org/W3103145119","https://openalex.org/W3112376646","https://openalex.org/W4220821700","https://openalex.org/W4244393794","https://openalex.org/W4281488837","https://openalex.org/W4281566145","https://openalex.org/W6650820226","https://openalex.org/W6838165288","https://openalex.org/W6838699187"],"related_works":["https://openalex.org/W2701062589","https://openalex.org/W4308914582","https://openalex.org/W4388126069","https://openalex.org/W2567393658","https://openalex.org/W2995122411","https://openalex.org/W2736466919","https://openalex.org/W4306317641","https://openalex.org/W1488337274","https://openalex.org/W4287611188","https://openalex.org/W2216178707"],"abstract_inverted_index":{"The":[0],"curation":[1],"of":[2,41,71,74,82,101,113,131,136],"genomic":[3,45],"variants":[4,21,46,114,135],"requires":[5],"collecting":[6],"evidence":[7],"not":[8,48],"only":[9,55],"in":[10,16,23,28,50,56,121],"variant":[11,87],"knowledge":[12],"bases":[13],"but":[14,54],"also":[15],"the":[17,29,51,57,65,72,80,99,111,122],"literature.":[18,31,124],"However,":[19],"some":[20],"result":[22],"no":[24,117],"match":[25,118],"when":[26],"searched":[27],"scientific":[30,84,123],"Indeed,":[32],"it":[33],"has":[34],"been":[35],"reported":[36,49],"that":[37,92],"a":[38,62,105,128],"significant":[39],"subset":[40],"information":[42,132],"related":[43],"to":[44,78,96],"are":[47],"full":[52],"text,":[53],"supplementary":[58,75],"materials":[59],"associated":[60],"with":[61],"publication.":[63],"In":[64],"study,":[66],"we":[67],"present":[68],"an":[69],"evaluation":[70],"use":[73],"data":[76],"(SD)":[77],"improve":[79],"retrieval":[81],"relevant":[83],"publications":[85],"for":[86,104,115,133],"curation.":[88],"Our":[89],"experiments":[90],"show":[91],"searching":[93],"SD":[94,125],"enables":[95],"significantly":[97],"increase":[98],"volume":[100],"documents":[102],"retrieved":[103],"variant,":[106],"thus":[107,126],"reducing":[108],"by":[109,144],"\u223c63%":[110],"number":[112],"which":[116,148],"is":[119],"found":[120],"represent":[127],"paramount":[129],"source":[130],"curating":[134],"unknown":[137],"significance":[138],"and":[139],"should":[140],"receive":[141],"more":[142],"attention":[143],"global":[145],"research":[146],"infrastructures,":[147],"maintain":[149],"literature":[150],"search":[151],"engines.":[152],"Database":[153],"URL":[154],"https://www.expasy.org/resources/variomes.":[155]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1}],"updated_date":"2026-05-23T08:51:43.019350","created_date":"2025-10-10T00:00:00"}