{"id":"https://openalex.org/W2911503701","doi":"https://doi.org/10.1093/bioinformatics/btz046","title":"Varanto: variant enrichment analysis and annotation","display_name":"Varanto: variant enrichment analysis and annotation","publication_year":2019,"publication_date":"2019-01-21","ids":{"openalex":"https://openalex.org/W2911503701","doi":"https://doi.org/10.1093/bioinformatics/btz046","mag":"2911503701","pmid":"https://pubmed.ncbi.nlm.nih.gov/30689722"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btz046","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz046","pdf_url":null,"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":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003377082","display_name":"Oskari Timonen","orcid":"https://orcid.org/0000-0002-6317-6260"},"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":"Oskari Timonen","raw_affiliation_strings":["Institute of Clinical Medicine, University of Eastern Finland , Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Institute of Clinical Medicine, University of Eastern Finland , Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070278935","display_name":"Mikko S\u00e4rkk\u00e4","orcid":"https://orcid.org/0000-0003-4525-4840"},"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":"Mikko S\u00e4rkk\u00e4","raw_affiliation_strings":["Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066028733","display_name":"Tibor F\u00fcl\u00f6p","orcid":"https://orcid.org/0000-0002-3346-7040"},"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":"Tibor F\u00fcl\u00f6p","raw_affiliation_strings":["Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084952614","display_name":"Anton Mattsson","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":"Anton Mattsson","raw_affiliation_strings":["Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033911368","display_name":"Juha Kek\u00e4l\u00e4inen","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":"Juha Kek\u00e4l\u00e4inen","raw_affiliation_strings":["Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]},{"author_position":"last","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":false,"raw_author_name":"Jussi Paananen","raw_affiliation_strings":["Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland"],"affiliations":[{"raw_affiliation_string":"Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland , Kuopio, Finland","institution_ids":["https://openalex.org/I175532246"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5003377082"],"corresponding_institution_ids":["https://openalex.org/I175532246"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":0.1793,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.60829639,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":"35","issue":"17","first_page":"3154","last_page":"3156"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9972000122070312,"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":0.9972000122070312,"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":0.994700014591217,"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":0.9941999912261963,"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/annotation","display_name":"Annotation","score":0.8117291927337646},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6928532719612122},{"id":"https://openalex.org/keywords/source-code","display_name":"Source code","score":0.6106822490692139},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.555321455001831},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.4781376123428345},{"id":"https://openalex.org/keywords/web-application","display_name":"Web application","score":0.45616939663887024},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.4274291694164276},{"id":"https://openalex.org/keywords/information-retrieval","display_name":"Information retrieval","score":0.39497625827789307},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.36050862073898315},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.3227981925010681},{"id":"https://openalex.org/keywords/world-wide-web","display_name":"World Wide Web","score":0.24650254845619202},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.19235751032829285},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1613008975982666},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.1331082284450531},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.13284090161323547},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.07009336352348328},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.0699772834777832}],"concepts":[{"id":"https://openalex.org/C2776321320","wikidata":"https://www.wikidata.org/wiki/Q857525","display_name":"Annotation","level":2,"score":0.8117291927337646},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6928532719612122},{"id":"https://openalex.org/C43126263","wikidata":"https://www.wikidata.org/wiki/Q128751","display_name":"Source code","level":2,"score":0.6106822490692139},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.555321455001831},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4781376123428345},{"id":"https://openalex.org/C118643609","wikidata":"https://www.wikidata.org/wiki/Q189210","display_name":"Web application","level":2,"score":0.45616939663887024},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4274291694164276},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.39497625827789307},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.36050862073898315},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3227981925010681},{"id":"https://openalex.org/C136764020","wikidata":"https://www.wikidata.org/wiki/Q466","display_name":"World Wide Web","level":1,"score":0.24650254845619202},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.19235751032829285},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1613008975982666},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.1331082284450531},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.13284090161323547},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.07009336352348328},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0699772834777832}],"mesh":[{"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":"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":"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":"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":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D055106","descriptor_name":"Genome-Wide Association Study","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058977","descriptor_name":"Molecular Sequence Annotation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btz046","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btz046","pdf_url":null,"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:30689722","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30689722","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},{"id":"pmh:oai:erepo.uef.fi:123456789/7932","is_oa":false,"landing_page_url":"https://erepo.uef.fi/handle/123456789/7932","pdf_url":null,"source":{"id":"https://openalex.org/S4306402418","display_name":"UEF eRepo (University of Eastern Finland)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I175532246","host_organization_name":"University of Eastern Finland","host_organization_lineage":["https://openalex.org/I175532246"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Tieteelliset aikakauslehtiartikkelit"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321108","display_name":"Academy of Finland","ror":"https://ror.org/05k73zm37"},{"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":23,"referenced_works":["https://openalex.org/W1563940013","https://openalex.org/W1587026990","https://openalex.org/W1980740976","https://openalex.org/W2045949302","https://openalex.org/W2103017472","https://openalex.org/W2110065044","https://openalex.org/W2122732537","https://openalex.org/W2128016314","https://openalex.org/W2130410032","https://openalex.org/W2133465414","https://openalex.org/W2145825942","https://openalex.org/W2169873962","https://openalex.org/W2174602966","https://openalex.org/W2320360917","https://openalex.org/W2559028527","https://openalex.org/W2582743722","https://openalex.org/W2604808360","https://openalex.org/W4252232449","https://openalex.org/W4254687493","https://openalex.org/W4399570526","https://openalex.org/W4399638148","https://openalex.org/W4399649310","https://openalex.org/W6633589378"],"related_works":["https://openalex.org/W2587112589","https://openalex.org/W2065120962","https://openalex.org/W2111842731","https://openalex.org/W4223972846","https://openalex.org/W2517753256","https://openalex.org/W2069221540","https://openalex.org/W2092398847","https://openalex.org/W1992310781","https://openalex.org/W4318828716","https://openalex.org/W4382396547"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2019,"cited_by_count":1}],"updated_date":"2026-04-04T16:13:02.066488","created_date":"2025-10-10T00:00:00"}