{"id":"https://openalex.org/W2561714060","doi":"https://doi.org/10.1093/bioinformatics/btw809","title":"MEGA-V: detection of variant gene sets in patient cohorts","display_name":"MEGA-V: detection of variant gene sets in patient cohorts","publication_year":2016,"publication_date":"2016-12-19","ids":{"openalex":"https://openalex.org/W2561714060","doi":"https://doi.org/10.1093/bioinformatics/btw809","mag":"2561714060","pmid":"https://pubmed.ncbi.nlm.nih.gov/28003259"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btw809","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw809","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/8/1248/25150412/btw809.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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","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":"hybrid","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/33/8/1248/25150412/btw809.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003750614","display_name":"Gennaro Gambardella","orcid":"https://orcid.org/0000-0001-7517-1347"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gennaro Gambardella","raw_affiliation_strings":["Division of Cancer Studies, King\u2019s College London, London, UK","Division of Cancer Studies, King's College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Division of Cancer Studies, King\u2019s College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Division of Cancer Studies, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072119941","display_name":"Matteo Cereda","orcid":"https://orcid.org/0000-0003-1799-5537"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Matteo Cereda","raw_affiliation_strings":["Division of Cancer Studies, King\u2019s College London, London, UK","Division of Cancer Studies, King's College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Division of Cancer Studies, King\u2019s College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Division of Cancer Studies, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038915399","display_name":"Lorena Benedetti","orcid":"https://orcid.org/0000-0002-0508-7630"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lorena Benedetti","raw_affiliation_strings":["Division of Cancer Studies, King\u2019s College London, London, UK","Division of Cancer Studies, King's College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Division of Cancer Studies, King\u2019s College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Division of Cancer Studies, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028555570","display_name":"Francesca D. Ciccarelli","orcid":"https://orcid.org/0000-0002-9325-0900"},"institutions":[{"id":"https://openalex.org/I183935753","display_name":"King's College London","ror":"https://ror.org/0220mzb33","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I183935753"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Francesca D Ciccarelli","raw_affiliation_strings":["Division of Cancer Studies, King\u2019s College London, London, UK","Division of Cancer Studies, King's College London, London, UK"],"affiliations":[{"raw_affiliation_string":"Division of Cancer Studies, King\u2019s College London, London, UK","institution_ids":["https://openalex.org/I183935753"]},{"raw_affiliation_string":"Division of Cancer Studies, King's College London, London, UK","institution_ids":["https://openalex.org/I183935753"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5028555570"],"corresponding_institution_ids":["https://openalex.org/I183935753"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":0.6009,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.7969932,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"33","issue":"8","first_page":"1248","last_page":"1249"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9997000098228455,"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":0.9997000098228455,"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":0.9979000091552734,"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":0.9973000288009644,"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/mega","display_name":"Mega-","score":0.9774121046066284},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.6028884053230286},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5941445231437683},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5626634955406189},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.4568496644496918},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4472709596157074},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.42205560207366943},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.16276836395263672}],"concepts":[{"id":"https://openalex.org/C2781078984","wikidata":"https://www.wikidata.org/wiki/Q107205","display_name":"Mega-","level":2,"score":0.9774121046066284},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.6028884053230286},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5941445231437683},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5626634955406189},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4568496644496918},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4472709596157074},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.42205560207366943},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.16276836395263672},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C1276947","wikidata":"https://www.wikidata.org/wiki/Q333","display_name":"Astronomy","level":1,"score":0.0},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1093/bioinformatics/btw809","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw809","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/8/1248/25150412/btw809.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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:28003259","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28003259","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:kclpure.kcl.ac.uk:publications/7ce925cc-71b2-49c8-9d6f-a869f9b03bf2","is_oa":true,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/7ce925cc-71b2-49c8-9d6f-a869f9b03bf2","pdf_url":"https://kclpure.kcl.ac.uk/ws/files/63569371/MEGA_V_detection_of_variant_GAMBARDELLA_Published21December2016_GOLD_VoR_CC_BY_.pdf","source":null,"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Gambardella , G , Cereda , M , Benedetti , L &amp; Ciccarelli , F D 2017 , ' MEGA-V: detection of variant gene sets in patient cohorts ' , BIOINFORMATICS , vol. 33 , no. 8 , pp. 1248-1249 . https://doi.org/10.1093/bioinformatics/btw80","raw_type":"article"},{"id":"pmh:oai:air.unimi.it:2434/898563","is_oa":true,"landing_page_url":"http://hdl.handle.net/2434/898563","pdf_url":null,"source":{"id":"https://openalex.org/S4306400516","display_name":"Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I189158943","host_organization_name":"University of Milan","host_organization_lineage":["https://openalex.org/I189158943"],"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":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5408849","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5408849","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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btw809","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btw809","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/33/8/1248/25150412/btw809.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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320320285","display_name":"King's College London","ror":"https://ror.org/0220mzb33"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2561714060.pdf","grobid_xml":"https://content.openalex.org/works/W2561714060.grobid-xml"},"referenced_works_count":7,"referenced_works":["https://openalex.org/W2063655230","https://openalex.org/W2110065044","https://openalex.org/W2114115532","https://openalex.org/W2130410032","https://openalex.org/W2163953557","https://openalex.org/W2341504574","https://openalex.org/W2473537204"],"related_works":["https://openalex.org/W4385584191","https://openalex.org/W102059279","https://openalex.org/W3191105034","https://openalex.org/W2163047545","https://openalex.org/W2026604048","https://openalex.org/W4386079986","https://openalex.org/W2922464302","https://openalex.org/W949046406","https://openalex.org/W2034625591","https://openalex.org/W2028961943"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2}],"updated_date":"2026-04-04T16:13:02.066488","created_date":"2025-10-10T00:00:00"}
