{"id":"https://openalex.org/W4285084283","doi":"https://doi.org/10.1371/journal.pone.0271395","title":"Identifying genes targeted by disease-associated non-coding SNPs with a protein knowledge graph","display_name":"Identifying genes targeted by disease-associated non-coding SNPs with a protein knowledge graph","publication_year":2022,"publication_date":"2022-07-13","ids":{"openalex":"https://openalex.org/W4285084283","doi":"https://doi.org/10.1371/journal.pone.0271395","pmid":"https://pubmed.ncbi.nlm.nih.gov/35830458","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9278741"},"language":"en","primary_location":{"id":"doi:10.1371/journal.pone.0271395","doi":"https://doi.org/10.1371/journal.pone.0271395","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0271395","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0271395&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0271395&type=printable","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049595091","display_name":"Wytze J. Vlietstra","orcid":"https://orcid.org/0000-0002-1096-8563","observed_orcids":["https://orcid.org/0000-0002-1096-8563"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I4405253794","display_name":"Elsevier BV (Netherlands)","ror":"https://ror.org/013fhv752","country_code":"NL","type":"company","lineage":["https://openalex.org/I1318003438","https://openalex.org/I4210160603","https://openalex.org/I4405253794"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Wytze J. Vlietstra","raw_affiliation_strings":["Data Science, Life Science Operations Department, Elsevier B.V., Amsterdam, the Netherlands","Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands"],"raw_orcid":"https://orcid.org/0000-0002-1096-8563","affiliations":[{"raw_affiliation_string":"Data Science, Life Science Operations Department, Elsevier B.V., Amsterdam, the Netherlands","institution_ids":["https://openalex.org/I4405253794"]},{"raw_affiliation_string":"Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001224245","display_name":"Rein Vos","orcid":"https://orcid.org/0000-0002-5034-3568","observed_orcids":["https://orcid.org/0000-0002-5034-3568","https://orcid.org/0000-0002-4429-1415"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]},{"id":"https://openalex.org/I34352273","display_name":"Maastricht University","ror":"https://ror.org/02jz4aj89","country_code":"NL","type":"education","lineage":["https://openalex.org/I34352273"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Rein Vos","raw_affiliation_strings":["Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands","Department of Methodology & Statistics, Maastricht University, Maastricht, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"Department of Methodology & Statistics, Maastricht University, Maastricht, the Netherlands","institution_ids":["https://openalex.org/I34352273"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053857782","display_name":"Erik M. van Mulligen","orcid":"https://orcid.org/0000-0003-1377-9386","observed_orcids":["https://orcid.org/0000-0003-1377-9386"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Erik M. van Mulligen","raw_affiliation_strings":["Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034635531","display_name":"Guido W Jenster","orcid":"https://orcid.org/0000-0002-8658-2552","observed_orcids":["https://orcid.org/0000-0002-8658-2552"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Guido W. Jenster","raw_affiliation_strings":["Department of Urology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005077862","display_name":"Jan A. Kors","orcid":"https://orcid.org/0000-0002-4929-026X","observed_orcids":["https://orcid.org/0000-0002-4929-026X"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Jan A. Kors","raw_affiliation_strings":["Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5001224245","https://openalex.org/A5005077862","https://openalex.org/A5034635531","https://openalex.org/A5049595091","https://openalex.org/A5053857782"],"corresponding_institution_ids":["https://openalex.org/I2801952686","https://openalex.org/I34352273","https://openalex.org/I4405253794"],"apc_list":{"value":1805,"currency":"USD","value_usd":1805},"apc_paid":{"value":1805,"currency":"USD","value_usd":1805},"fwci":0.292,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.39176671,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"17","issue":"7","first_page":"e0271395","last_page":"e0271395"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.8564000129699707,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.8564000129699707,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.08709999918937683,"subfield":{"id":"https://openalex.org/subfields/2718","display_name":"Health Informatics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.039400000125169754,"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/disease-associated-snps","display_name":"disease-associated SNPs","score":0.8920000195503235},{"id":"https://openalex.org/keywords/gene-targeting","display_name":"gene targeting","score":0.5170000195503235},{"id":"https://openalex.org/keywords/disease-gene-identification","display_name":"disease gene identification","score":0.7829999923706055},{"id":"https://openalex.org/keywords/guilt-by-association","display_name":"guilt by association","score":0.9089999794960022},{"id":"https://openalex.org/keywords/genetic-distance","display_name":"genetic distance","score":0.6010000109672546},{"id":"https://openalex.org/keywords/combination-method","display_name":"method combination","score":0.6570000052452087},{"id":"https://openalex.org/keywords/gene-expression-regulation","display_name":"gene expression regulation","score":0.48500001430511475}],"concepts":[{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.596540093421936},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5847378373146057},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5789801478385925},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47866472601890564},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.42926138639450073},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.4137554168701172},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.10338085889816284}],"mesh":[{"descriptor_ui":"D010363","descriptor_name":"Pattern Recognition, Automated","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":9,"locations":[{"id":"doi:10.1371/journal.pone.0271395","doi":"https://doi.org/10.1371/journal.pone.0271395","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0271395","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0271395&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},{"id":"pmid:35830458","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35830458","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,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PloS one","raw_type":"Journal Article"},{"id":"pmh:oai:cris.maastrichtuniversity.nl:openaire/3bdb0c06-7672-419b-8c11-030d791d9d9e","doi":null,"is_oa":true,"landing_page_url":"https://cris.maastrichtuniversity.nl/en/publications/3bdb0c06-7672-419b-8c11-030d791d9d9e","pdf_url":null,"source":{"id":"https://openalex.org/S4306402616","display_name":"Research Publications (Maastricht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I34352273","host_organization_name":"Maastricht University","host_organization_lineage":["https://openalex.org/I34352273"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Vlietstra, W J, Vos, R, van Mulligen, E M, Jenster, G W & Kors, J A 2022, 'Identifying genes targeted by disease-associated non-coding SNPs with a protein knowledge graph', PLOS ONE, vol. 17, no. 7, e0271395, pp. e0271395. https://doi.org/10.1371/journal.pone.0271395","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9278741","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9278741/","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,"listed_in":[],"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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLoS One","raw_type":"Text"},{"id":"pmh:oai:pure.eur.nl:openaire/db98544e-ab3e-4106-99e0-a421e6c8316f","doi":null,"is_oa":true,"landing_page_url":"https://pure.eur.nl/files/60562564/Identifying_genes_targeted_by_disease_associated_non_coding_SNPs_with_a_protein_knowledge_graph.pdf","pdf_url":"https://pure.eur.nl/ws/files/60562564/Identifying_genes_targeted_by_disease_associated_non_coding_SNPs_with_a_protein_knowledge_graph.pdf","source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"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":"Vlietstra, W J, Vos, R, van Mulligen, E M, Jenster, G W & Kors, J A 2022, 'Identifying genes targeted by disease-associated non-coding SNPs with a protein knowledge graph', PLoS ONE, vol. 17, no. 7 July, e0271395. https://doi.org/10.1371/journal.pone.0271395","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/db98544e-ab3e-4106-99e0-a421e6c8316f","doi":null,"is_oa":true,"landing_page_url":"https://pure.eur.nl/en/publications/db98544e-ab3e-4106-99e0-a421e6c8316f","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, 17(7 July):e0271395. Public Library of Science","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:25b6df946f85487a99c1bc18ef187f07","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/25b6df946f85487a99c1bc18ef187f07","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":"PLoS ONE, Vol 17, Iss 7 (2022)","raw_type":"article"},{"id":"pmh:oai:doaj.org/article:d18d178dca1f432fbd5e8da5b393e046","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/d18d178dca1f432fbd5e8da5b393e046","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"PLoS ONE, Vol 17, Iss 7, p e0271395 (2022)","raw_type":"article"},{"id":"pmh:um:oai:cris.maastrichtuniversity.nl:publications/3bdb0c06-7672-419b-8c11-030d791d9d9e","doi":null,"is_oa":true,"landing_page_url":"https://cris.maastrichtuniversity.nl/en/publications/3bdb0c06-7672-419b-8c11-030d791d9d9e","pdf_url":null,"source":{"id":"https://openalex.org/S4306402616","display_name":"Research Publications (Maastricht University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I34352273","host_organization_name":"Maastricht University","host_organization_lineage":["https://openalex.org/I34352273"],"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":"PLOS ONE, 17(7). Public Library of Science","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1371/journal.pone.0271395","doi":"https://doi.org/10.1371/journal.pone.0271395","is_oa":true,"landing_page_url":"https://doi.org/10.1371/journal.pone.0271395","pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0271395&type=printable","source":{"id":"https://openalex.org/S202381698","display_name":"PLoS ONE","issn_l":"1932-6203","issn":["1932-6203"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","doaj","dongbi-c","doyens","erih-plus","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315706","host_organization_name":"Public Library of Science","host_organization_lineage":["https://openalex.org/P4310315706"],"host_organization_lineage_names":["Public Library of Science"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"PLOS ONE","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4285084283.pdf","grobid_xml":"https://content.openalex.org/works/W4285084283.grobid-xml"},"referenced_works_count":55,"referenced_works":["https://openalex.org/W1523095068","https://openalex.org/W1565746575","https://openalex.org/W1929627202","https://openalex.org/W1991832623","https://openalex.org/W2003283154","https://openalex.org/W2046434400","https://openalex.org/W2051315170","https://openalex.org/W2062533676","https://openalex.org/W2070412833","https://openalex.org/W2078059415","https://openalex.org/W2091126023","https://openalex.org/W2095403534","https://openalex.org/W2104261859","https://openalex.org/W2107916366","https://openalex.org/W2110553827","https://openalex.org/W2115801316","https://openalex.org/W2119412782","https://openalex.org/W2120051475","https://openalex.org/W2120063363","https://openalex.org/W2123743563","https://openalex.org/W2125972459","https://openalex.org/W2132022337","https://openalex.org/W2136333803","https://openalex.org/W2153280946","https://openalex.org/W2155699197","https://openalex.org/W2156714600","https://openalex.org/W2167806431","https://openalex.org/W2169049983","https://openalex.org/W2198001326","https://openalex.org/W2225530246","https://openalex.org/W2254879037","https://openalex.org/W2263739890","https://openalex.org/W2411890015","https://openalex.org/W2503647350","https://openalex.org/W2523679382","https://openalex.org/W2549987325","https://openalex.org/W2754104053","https://openalex.org/W2770092353","https://openalex.org/W2789238142","https://openalex.org/W2801470635","https://openalex.org/W2806061307","https://openalex.org/W2889646458","https://openalex.org/W2892229719","https://openalex.org/W2904868717","https://openalex.org/W2930902918","https://openalex.org/W2937757026","https://openalex.org/W2950833796","https://openalex.org/W2962756421","https://openalex.org/W2996939161","https://openalex.org/W3081346022","https://openalex.org/W3092849554","https://openalex.org/W3210601686","https://openalex.org/W4300196896","https://openalex.org/W4320813702","https://openalex.org/W4379365690"],"related_works":["https://openalex.org/W2003038076","https://openalex.org/W7165421470","https://openalex.org/W7127976718","https://openalex.org/W4400116545","https://openalex.org/W3108155943","https://openalex.org/W2409852956","https://openalex.org/W2121495549","https://openalex.org/W2980476708","https://openalex.org/W7134884384","https://openalex.org/W4379875932"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1],"studies":[2],"(GWAS)":[3],"have":[4,70],"identified":[5],"many":[6],"single":[7],"nucleotide":[8],"polymorphisms":[9],"(SNPs)":[10],"that":[11,40,77,101,144,154,192,196,231,264],"play":[12],"important":[13],"roles":[14],"in":[15],"the":[16,30,34,44,50,65,112,151,157,161,203,207,213],"genetic":[17],"heritability":[18],"of":[19,25,33,46,114,124,172,206,219,247],"traits":[20],"and":[21,110,149],"diseases.":[22],"With":[23],"most":[24],"these":[26,41,59,165],"SNPs":[27,42,61,107,155],"located":[28],"on":[29,49,147,160,221],"non-coding":[31,106,282],"part":[32],"genome,":[35],"it":[36],"is":[37,145],"currently":[38],"assumed":[39],"influence":[43],"expression":[45],"nearby":[47],"genes":[48,55,76,100,277],"genome.":[51,162],"However,":[52],"identifying":[53],"which":[54,125,173,243,276],"are":[56,78,102,278],"targeted":[57,103,279],"by":[58,104,108,176,280],"disease-associated":[60,105,281],"remains":[62],"challenging.":[63],"In":[64],"past,":[66],"protein":[67,92,120,193,268],"knowledge":[68,93,121,194,229,269],"graphs":[69,94,195,230],"often":[71],"been":[72],"used":[73,97,273],"to":[74,84,98,183,202,237,259,274],"identify":[75,99,275],"associated":[79],"with":[80,167],"disease,":[81],"also":[82],"referred":[83],"as":[85],"\"disease":[86],"genes\".":[87],"Here,":[88],"we":[89,180],"explore":[90],"whether":[91,185],"can":[95,271],"be":[96,272],"testing":[109],"comparing":[111],"performance":[113,135,258],"six":[115],"existing":[116,141],"methods":[117,166,182,256,265],"for":[118,128,266],"a":[119,267],"graph,":[122],"four":[123,168,225,251],"were":[126,174],"developed":[127],"disease":[129],"gene":[130,159],"identification.":[131],"We":[132,163,190,262],"compare":[133],"our":[134,238],"against":[136],"two":[137],"baselines:":[138],"(1)":[139],"an":[140,210,245],"state-of-the-art":[142],"method":[143],"based":[146],"guilt-by-association,":[148],"(2)":[150],"leading":[152],"assumption":[153],"target":[156],"nearest":[158],"test":[164],"reference":[169,226,252],"sets,":[170],"three":[171],"obtained":[175],"different":[177],"means.":[178],"Furthermore,":[179],"combine":[181],"investigate":[184],"their":[186],"combination":[187],"improves":[188],"performance.":[189],"find":[191],"include":[197],"predicate":[198,233],"information":[199,234],"perform":[200,235],"comparable":[201,236],"current":[204],"state":[205],"art,":[208],"achieving":[209],"area":[211],"under":[212],"receiver":[214],"operating":[215],"characteristic":[216],"curve":[217],"(AUC)":[218],"79.6%":[220],"average":[222],"across":[223,249],"all":[224,250],"sets.":[227,253],"Protein":[228],"lack":[232],"other":[239],"baseline":[240],"(genetic":[241],"distance)":[242],"achieved":[244],"AUC":[246],"75.7%":[248],"Combining":[254],"multiple":[255],"improved":[257],"84.9%":[260],"AUC.":[261],"conclude":[263],"graph":[270],"SNPs.":[283]},"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":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2022-07-14T00:00:00"}
