{"id":"https://openalex.org/W2116915192","doi":"https://doi.org/10.1093/database/baq016","title":"Varietas: a functional variation database portal","display_name":"Varietas: a functional variation database portal","publication_year":2010,"publication_date":"2010-07-29","ids":{"openalex":"https://openalex.org/W2116915192","doi":"https://doi.org/10.1093/database/baq016","mag":"2116915192","pmid":"https://pubmed.ncbi.nlm.nih.gov/20671203"},"language":"en","primary_location":{"id":"doi:10.1093/database/baq016","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baq016","pdf_url":null,"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://doi.org/10.1093/database/baq016","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047977221","display_name":"Jussi Paananen","orcid":"https://orcid.org/0000-0001-5100-4907"},"institutions":[{"id":"https://openalex.org/I175532246","display_name":"University of Eastern Finland","ror":"https://ror.org/00cyydd11","country_code":"FI","type":"education","lineage":["https://openalex.org/I175532246"]}],"countries":["FI"],"is_corresponding":true,"raw_author_name":"J. Paananen","raw_affiliation_strings":["Laboratory of Functional Genomics and Bioinformatics, Department of Neurobiology, A.I. Virtanen Institute for Molecular Sciences and Biocenter Finland, University of Eastern Finland, P.O. Box 1627, FIN-70211 Kuopio, Finland. jussi.paananen@uef.fi","Laboratory of Functional Genomics and Bioinformatics, Department of Neurobiology, A.I. Virtanen Institute for Molecular Sciences and Biocenter Finland, University of Eastern Finland, P.O. Box 1627, FIN-70211 Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Laboratory of Functional Genomics and Bioinformatics, Department of Neurobiology, A.I. Virtanen Institute for Molecular Sciences and Biocenter Finland, University of Eastern Finland, P.O. Box 1627, FIN-70211 Kuopio, Finland. jussi.paananen@uef.fi","institution_ids":["https://openalex.org/I175532246"]},{"raw_affiliation_string":"Laboratory of Functional Genomics and Bioinformatics, Department of Neurobiology, A.I. Virtanen Institute for Molecular Sciences and Biocenter Finland, University of Eastern Finland, P.O. Box 1627, FIN-70211 Kuopio, Finland","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051557007","display_name":"Robert Ciszek","orcid":null},"institutions":[{"id":"https://openalex.org/I175532246","display_name":"University of Eastern Finland","ror":"https://ror.org/00cyydd11","country_code":"FI","type":"education","lineage":["https://openalex.org/I175532246"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"R. Ciszek","raw_affiliation_strings":["University of Eastern Finland, Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"University of Eastern Finland, Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5063000955","display_name":"Garry Wong","orcid":"https://orcid.org/0000-0003-4566-9958"},"institutions":[{"id":"https://openalex.org/I175532246","display_name":"University of Eastern Finland","ror":"https://ror.org/00cyydd11","country_code":"FI","type":"education","lineage":["https://openalex.org/I175532246"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"G. Wong","raw_affiliation_strings":["University of Eastern Finland, Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"University of Eastern Finland, Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5047977221"],"corresponding_institution_ids":["https://openalex.org/I175532246"],"apc_list":{"value":1415,"currency":"GBP","value_usd":1735},"apc_paid":{"value":1415,"currency":"GBP","value_usd":1735},"fwci":1.4812,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.8402289,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"2010","issue":"0","first_page":"baq016","last_page":"baq016"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9987000226974487,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9987000226974487,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9973999857902527,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9965999722480774,"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/ensembl","display_name":"Ensembl","score":0.7377342581748962},{"id":"https://openalex.org/keywords/dbsnp","display_name":"dbSNP","score":0.7013893723487854},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.4789867401123047},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4638161063194275},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.4526304304599762},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.4475477635860443},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.3824288249015808},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.35090261697769165},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.33079013228416443},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.21121421456336975},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1976083219051361},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.11055803298950195}],"concepts":[{"id":"https://openalex.org/C141674004","wikidata":"https://www.wikidata.org/wiki/Q1344256","display_name":"Ensembl","level":5,"score":0.7377342581748962},{"id":"https://openalex.org/C35794970","wikidata":"https://www.wikidata.org/wiki/Q5243761","display_name":"dbSNP","level":5,"score":0.7013893723487854},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4789867401123047},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4638161063194275},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.4526304304599762},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.4475477635860443},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.3824288249015808},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35090261697769165},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.33079013228416443},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.21121421456336975},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1976083219051361},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11055803298950195}],"mesh":[{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014584","descriptor_name":"User-Computer Interface","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","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":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056915","descriptor_name":"DNA Copy Number Variations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/database/baq016","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baq016","pdf_url":null,"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:20671203","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20671203","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:2997604","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2997604","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Database (Oxford)","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/database/baq016","is_oa":true,"landing_page_url":"https://doi.org/10.1093/database/baq016","pdf_url":null,"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":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320310055","display_name":"It\u00e4-Suomen Yliopisto","ror":"https://ror.org/00cyydd11"},{"id":"https://openalex.org/F4320329810","display_name":"Saastamoisen s\u00e4\u00e4ti\u00f6","ror":"https://ror.org/03f0nw643"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1973798273","https://openalex.org/W1977223768","https://openalex.org/W2001629081","https://openalex.org/W2014469644","https://openalex.org/W2022617607","https://openalex.org/W2047253404","https://openalex.org/W2048296798","https://openalex.org/W2072821115","https://openalex.org/W2096525273","https://openalex.org/W2100759751","https://openalex.org/W2102729801","https://openalex.org/W2109529720","https://openalex.org/W2109937739","https://openalex.org/W2117446594","https://openalex.org/W2119279196","https://openalex.org/W2119412782","https://openalex.org/W2129420975","https://openalex.org/W2130410032","https://openalex.org/W2133785492","https://openalex.org/W2145065529","https://openalex.org/W2154238506","https://openalex.org/W2164868723","https://openalex.org/W2169902960","https://openalex.org/W2171645979","https://openalex.org/W4250297812"],"related_works":["https://openalex.org/W172227456","https://openalex.org/W2901592770","https://openalex.org/W1539262549","https://openalex.org/W2312416044","https://openalex.org/W2352434324","https://openalex.org/W2376114745","https://openalex.org/W2099099788","https://openalex.org/W4249158346","https://openalex.org/W3034788093","https://openalex.org/W2115709641"],"abstract_inverted_index":{"Current":[0],"high-throughput":[1],"technologies":[2],"for":[3,62],"investigating":[4],"genomic":[5,66,109],"variation":[6],"in":[7,34,87],"large":[8,83],"population":[9],"based":[10],"samples":[11],"produce":[12],"data":[13,130],"on":[14],"a":[15,31,52,88,117],"scale":[16],"of":[17,19,85,119],"millions":[18],"variations.":[20],"Browsing":[21],"through":[22,116],"these":[23,35],"results":[24],"and":[25,76,92,100,121,135,149],"identifying":[26],"relevant":[27],"functional":[28],"variations":[29,67,86,120],"is":[30],"major":[32,133],"hurdle":[33],"genome-wide":[36],"association":[37],"studies.":[38],"In":[39],"order":[40],"to":[41,81,93,106,113],"help":[42],"researchers":[43],"locate":[44],"the":[45,123,132],"most":[46,124],"promising":[47,125],"associations,":[48],"we":[49],"have":[50],"developed":[51],"web-based":[53],"database":[54],"portal":[55],"called":[56],"Varietas.":[57],"Varietas":[58,102,127],"can":[59],"be":[60],"used":[61],"retrieving":[63],"information":[64,95],"concerning":[65],"such":[68],"as":[69],"single-nucleotide":[70],"polymorphisms":[71],"(SNPs),":[72],"copy":[73],"number":[74,84],"variants":[75],"insertions/deletions,":[77],"while":[78],"enabling":[79],"users":[80,112],"annotate":[82],"batch":[89],"like":[90],"manner":[91],"find":[94],"about":[96],"related":[97],"genes,":[98],"phenotypes":[99],"diseases.":[101],"also":[103],"links":[104],"out":[105],"various":[107],"external":[108],"databases,":[110,137],"allowing":[111],"quickly":[114],"browse":[115],"set":[118],"follow":[122],"leads.":[126],"periodically":[128],"integrates":[129],"from":[131],"SNP":[134],"genome":[136,140],"including":[138],"Ensembl":[139],"database,":[141,144],"NCBI":[142],"dbSNP":[143],"The":[145],"Genomic":[146],"Association":[147],"Database":[148,151],"SNPedia.":[150],"URL:":[152],"http://kokki.uku.fi/bioinformatics/varietas/":[153]},"counts_by_year":[{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-01-13T01:12:25.745995","created_date":"2025-10-10T00:00:00"}
