{"id":"https://openalex.org/W2137089630","doi":"https://doi.org/10.1093/bioinformatics/btn516","title":"GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies","display_name":"GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies","publication_year":2008,"publication_date":"2008-10-14","ids":{"openalex":"https://openalex.org/W2137089630","doi":"https://doi.org/10.1093/bioinformatics/btn516","mag":"2137089630","pmid":"https://pubmed.ncbi.nlm.nih.gov/18854360"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btn516","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btn516","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/24/23/2784/49055830/bioinformatics_24_23_2784.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/24/23/2784/49055830/bioinformatics_24_23_2784.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101719544","display_name":"Marit Holden","orcid":"https://orcid.org/0000-0003-0074-0829"},"institutions":[{"id":"https://openalex.org/I184942183","display_name":"University of Oslo","ror":"https://ror.org/01xtthb56","country_code":"NO","type":"education","lineage":["https://openalex.org/I184942183"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I144648426","display_name":"Norwegian Computing Center","ror":"https://ror.org/02gm7te43","country_code":"NO","type":"nonprofit","lineage":["https://openalex.org/I144648426"]},{"id":"https://openalex.org/I2800192669","display_name":"Akershus University Hospital","ror":"https://ror.org/0331wat71","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800192669"]}],"countries":["DE","NO"],"is_corresponding":true,"raw_author_name":"Marit Holden","raw_affiliation_strings":["1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"],"affiliations":[{"raw_affiliation_string":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway","institution_ids":["https://openalex.org/I144648426","https://openalex.org/I197323543","https://openalex.org/I2800192669","https://openalex.org/I184942183"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045058334","display_name":"Shiwei Deng","orcid":null},"institutions":[{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I2800192669","display_name":"Akershus University Hospital","ror":"https://ror.org/0331wat71","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800192669"]},{"id":"https://openalex.org/I144648426","display_name":"Norwegian Computing Center","ror":"https://ror.org/02gm7te43","country_code":"NO","type":"nonprofit","lineage":["https://openalex.org/I144648426"]},{"id":"https://openalex.org/I184942183","display_name":"University of Oslo","ror":"https://ror.org/01xtthb56","country_code":"NO","type":"education","lineage":["https://openalex.org/I184942183"]}],"countries":["DE","NO"],"is_corresponding":false,"raw_author_name":"Shiwei Deng","raw_affiliation_strings":["1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"],"affiliations":[{"raw_affiliation_string":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway","institution_ids":["https://openalex.org/I144648426","https://openalex.org/I197323543","https://openalex.org/I2800192669","https://openalex.org/I184942183"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017846615","display_name":"Leszek Wojnowski","orcid":null},"institutions":[{"id":"https://openalex.org/I144648426","display_name":"Norwegian Computing Center","ror":"https://ror.org/02gm7te43","country_code":"NO","type":"nonprofit","lineage":["https://openalex.org/I144648426"]},{"id":"https://openalex.org/I2800192669","display_name":"Akershus University Hospital","ror":"https://ror.org/0331wat71","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800192669"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I184942183","display_name":"University of Oslo","ror":"https://ror.org/01xtthb56","country_code":"NO","type":"education","lineage":["https://openalex.org/I184942183"]}],"countries":["DE","NO"],"is_corresponding":false,"raw_author_name":"Leszek Wojnowski","raw_affiliation_strings":["1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"],"affiliations":[{"raw_affiliation_string":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway","institution_ids":["https://openalex.org/I144648426","https://openalex.org/I197323543","https://openalex.org/I2800192669","https://openalex.org/I184942183"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109221600","display_name":"Bettina Kulle","orcid":null},"institutions":[{"id":"https://openalex.org/I144648426","display_name":"Norwegian Computing Center","ror":"https://ror.org/02gm7te43","country_code":"NO","type":"nonprofit","lineage":["https://openalex.org/I144648426"]},{"id":"https://openalex.org/I2800192669","display_name":"Akershus University Hospital","ror":"https://ror.org/0331wat71","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800192669"]},{"id":"https://openalex.org/I197323543","display_name":"Johannes Gutenberg University Mainz","ror":"https://ror.org/023b0x485","country_code":"DE","type":"education","lineage":["https://openalex.org/I197323543"]},{"id":"https://openalex.org/I184942183","display_name":"University of Oslo","ror":"https://ror.org/01xtthb56","country_code":"NO","type":"education","lineage":["https://openalex.org/I184942183"]}],"countries":["DE","NO"],"is_corresponding":false,"raw_author_name":"Bettina Kulle","raw_affiliation_strings":["1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"],"affiliations":[{"raw_affiliation_string":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway","institution_ids":["https://openalex.org/I144648426","https://openalex.org/I197323543","https://openalex.org/I2800192669","https://openalex.org/I184942183"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5101719544"],"corresponding_institution_ids":["https://openalex.org/I144648426","https://openalex.org/I184942183","https://openalex.org/I197323543","https://openalex.org/I2800192669"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":8.4041,"has_fulltext":false,"cited_by_count":184,"citation_normalized_percentile":{"value":0.97911487,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"24","issue":"23","first_page":"2784","last_page":"2785"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9991000294685364,"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"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9991000294685364,"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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.9984999895095825,"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/T10885","display_name":"Gene expression and cancer classification","score":0.9958000183105469,"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/snp","display_name":"SNP","score":0.8115158081054688},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5749243497848511},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.5690943598747253},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.528663158416748},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4997427463531494},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.4577876329421997},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4455547332763672},{"id":"https://openalex.org/keywords/snp-array","display_name":"SNP array","score":0.44455936551094055},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.440860390663147},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.4367194175720215},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.426000714302063},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.33845946192741394},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.19461748003959656}],"concepts":[{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.8115158081054688},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5749243497848511},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5690943598747253},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.528663158416748},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4997427463531494},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4577876329421997},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4455547332763672},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.44455936551094055},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.440860390663147},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.4367194175720215},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.426000714302063},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.33845946192741394},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.19461748003959656},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/bioinformatics/btn516","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btn516","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/24/23/2784/49055830/bioinformatics_24_23_2784.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:18854360","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18854360","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics (Oxford, England)","raw_type":null}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btn516","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btn516","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/24/23/2784/49055830/bioinformatics_24_23_2784.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals","score":0.4300000071525574}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2137089630.pdf","grobid_xml":"https://content.openalex.org/works/W2137089630.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W1979200514","https://openalex.org/W1985695385","https://openalex.org/W1990139289","https://openalex.org/W2010801235","https://openalex.org/W2042103448","https://openalex.org/W2066669827","https://openalex.org/W2084974619","https://openalex.org/W2095859714","https://openalex.org/W2113381189","https://openalex.org/W2116678763","https://openalex.org/W2130410032","https://openalex.org/W2136024858","https://openalex.org/W2137703201","https://openalex.org/W2216105551","https://openalex.org/W4248511192"],"related_works":["https://openalex.org/W2164855536","https://openalex.org/W1997352593","https://openalex.org/W2143489661","https://openalex.org/W2070581548","https://openalex.org/W4281711902","https://openalex.org/W3206555169","https://openalex.org/W3016573916","https://openalex.org/W3157359833","https://openalex.org/W2329144129","https://openalex.org/W2410422322"],"abstract_inverted_index":{"The":[0,47,118],"power":[1,77],"of":[2,15,42,86,96],"genome-wide":[3,43],"SNP":[4,26],"association":[5,27,79,113],"studies":[6,114],"is":[7,120],"limited,":[8],"among":[9],"others,":[10],"by":[11],"the":[12,30,53,84,94,97],"large":[13],"number":[14],"false":[16],"positive":[17],"test":[18],"results.":[19],"To":[20],"provide":[21],"a":[22,58,66,72],"remedy,":[23],"we":[24],"combined":[25],"analysis":[28,35],"with":[29,71,108],"pathway-driven":[31],"gene":[32,44],"set":[33],"enrichment":[34],"(GSEA),":[36],"recently":[37],"developed":[38],"to":[39,105],"facilitate":[40,83],"handling":[41],"expression":[45],"data.":[46],"resulting":[48],"GSEA-SNP":[49,81,101],"method":[50],"rests":[51],"on":[52],"assumption":[54],"that":[55],"SNPs":[56,88],"underlying":[57,98],"disease":[59],"phenotype":[60],"are":[61],"enriched":[62],"in":[63,112],"genes":[64],"constituting":[65],"signaling":[67],"pathway":[68,116],"or":[69],"those":[70],"common":[73],"regulation.":[74],"Besides":[75],"improving":[76],"for":[78],"mapping,":[80],"may":[82,102],"identification":[85],"disease-associated":[87],"and":[89,123],"pathways,":[90],"as":[91,93],"well":[92],"understanding":[95],"biological":[99],"mechanisms.":[100],"also":[103],"help":[104],"identify":[106],"markers":[107],"weak":[109],"effects,":[110],"undetectable":[111],"without":[115],"consideration.":[117],"program":[119],"freely":[121],"available":[122],"can":[124],"be":[125],"downloaded":[126],"from":[127],"our":[128],"website.":[129]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":15},{"year":2019,"cited_by_count":11},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":13},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":16},{"year":2013,"cited_by_count":20},{"year":2012,"cited_by_count":18}],"updated_date":"2026-04-07T14:57:38.498316","created_date":"2025-10-10T00:00:00"}
