{"id":"https://openalex.org/W4313396096","doi":"https://doi.org/10.1186/s12859-022-05122-x","title":"PhenoExam: gene set analyses through integration of different phenotype databases","display_name":"PhenoExam: gene set analyses through integration of different phenotype databases","publication_year":2022,"publication_date":"2022-12-31","ids":{"openalex":"https://openalex.org/W4313396096","doi":"https://doi.org/10.1186/s12859-022-05122-x","pmid":"https://pubmed.ncbi.nlm.nih.gov/36587217"},"language":"en","primary_location":{"id":"doi:10.1186/s12859-022-05122-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-022-05122-x","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-022-05122-x","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-022-05122-x","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Alejandro Cisterna","orcid":null},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Alejandro Cisterna","raw_affiliation_strings":["Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000027012","display_name":"Aurora Gonz\u00e1lez-Vidal","orcid":"https://orcid.org/0000-0002-4398-0243"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Aurora Gonz\u00e1lez-Vidal","raw_affiliation_strings":["Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053374452","display_name":"Daniel Ru\u00edz","orcid":"https://orcid.org/0000-0002-5875-5305"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Daniel Ruiz","raw_affiliation_strings":["Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078892003","display_name":"Jord\u00ed Ortiz","orcid":"https://orcid.org/0000-0002-9748-2290"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jordi Ortiz","raw_affiliation_strings":["Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076611003","display_name":"Alicia G\u00f3mez-Pascual","orcid":"https://orcid.org/0000-0003-2348-9083"},"institutions":[{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alicia G\u00f3mez-Pascual","raw_affiliation_strings":["Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain","institution_ids":["https://openalex.org/I80180929"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016118485","display_name":"Zhongbo Chen","orcid":"https://orcid.org/0000-0001-6668-7202"},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Zhongbo Chen","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113839983","display_name":"Mike A. Nalls","orcid":null},"institutions":[{"id":"https://openalex.org/I1279571640","display_name":"Alzheimer's Association","ror":"https://ror.org/0375f4d26","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1279571640"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210086327","display_name":"Data Tecnica International (United States)","ror":"https://ror.org/001h41c24","country_code":"US","type":"company","lineage":["https://openalex.org/I4210086327"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mike Nalls","raw_affiliation_strings":["Center for Alzheimer's and Related Dememtias, NIH, Bethesda, MD, USA","Data Tecnica International LLC, Glen Echo, MD, USA","Laboratory of Neurogenetics, NIA/NIH, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Alzheimer's and Related Dememtias, NIH, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1279571640"]},{"raw_affiliation_string":"Data Tecnica International LLC, Glen Echo, MD, USA","institution_ids":["https://openalex.org/I4210086327"]},{"raw_affiliation_string":"Laboratory of Neurogenetics, NIA/NIH, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057555985","display_name":"Faraz Faghri","orcid":"https://orcid.org/0000-0001-5744-8728"},"institutions":[{"id":"https://openalex.org/I1279571640","display_name":"Alzheimer's Association","ror":"https://ror.org/0375f4d26","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1279571640"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210086327","display_name":"Data Tecnica International (United States)","ror":"https://ror.org/001h41c24","country_code":"US","type":"company","lineage":["https://openalex.org/I4210086327"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Faraz Faghri","raw_affiliation_strings":["Center for Alzheimer's and Related Dememtias, NIH, Bethesda, MD, USA","Data Tecnica International LLC, Glen Echo, MD, USA","Laboratory of Neurogenetics, NIA/NIH, Bethesda, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Alzheimer's and Related Dememtias, NIH, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1279571640"]},{"raw_affiliation_string":"Data Tecnica International LLC, Glen Echo, MD, USA","institution_ids":["https://openalex.org/I4210086327"]},{"raw_affiliation_string":"Laboratory of Neurogenetics, NIA/NIH, Bethesda, MD, USA","institution_ids":["https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423"},"institutions":[{"id":"https://openalex.org/I200769079","display_name":"Hong Kong University of Science and Technology","ror":"https://ror.org/00q4vv597","country_code":"HK","type":"education","lineage":["https://openalex.org/I200769079"]},{"id":"https://openalex.org/I4210151618","display_name":"National Hospital for Neurology and Neurosurgery","ror":"https://ror.org/048b34d51","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1340918713","https://openalex.org/I4210151618"]},{"id":"https://openalex.org/I4210152695","display_name":"Nano and Advanced Materials Institute","ror":"https://ror.org/05m0z0h30","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210152695"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CN","GB","HK"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK","Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong, China","Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK","UCL Movement Disorders Centre, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong, China","institution_ids":["https://openalex.org/I4210152695","https://openalex.org/I200769079"]},{"raw_affiliation_string":"Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I4210151618","https://openalex.org/I45129253"]},{"raw_affiliation_string":"UCL Movement Disorders Centre, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069461177","display_name":"Irene D\u00edez","orcid":null},"institutions":[{"id":"https://openalex.org/I4210152439","display_name":"Instituto de Medicina Gen\u00f3mica","ror":"https://ror.org/03t4ypp04","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210152439"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Irene D\u00edez","raw_affiliation_strings":["NIMGenetics Gen\u00f3mica y Medicina S.L, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIMGenetics Gen\u00f3mica y Medicina S.L, Madrid, Spain","institution_ids":["https://openalex.org/I4210152439"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039483810","display_name":"Paolo Maietta","orcid":"https://orcid.org/0000-0002-9446-8063"},"institutions":[{"id":"https://openalex.org/I4210152439","display_name":"Instituto de Medicina Gen\u00f3mica","ror":"https://ror.org/03t4ypp04","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210152439"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Paolo Maietta","raw_affiliation_strings":["NIMGenetics Gen\u00f3mica y Medicina S.L, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIMGenetics Gen\u00f3mica y Medicina S.L, Madrid, Spain","institution_ids":["https://openalex.org/I4210152439"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009021448","display_name":"Sara \u00c1lvarez","orcid":"https://orcid.org/0000-0001-8167-4725"},"institutions":[{"id":"https://openalex.org/I4210152439","display_name":"Instituto de Medicina Gen\u00f3mica","ror":"https://ror.org/03t4ypp04","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210152439"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Sara \u00c1lvarez","raw_affiliation_strings":["NIMGenetics Gen\u00f3mica y Medicina S.L, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"NIMGenetics Gen\u00f3mica y Medicina S.L, Madrid, Spain","institution_ids":["https://openalex.org/I4210152439"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042439287","display_name":"Mina Ryten","orcid":"https://orcid.org/0000-0001-9520-6957"},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mina Ryten","raw_affiliation_strings":["Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK","Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, WC1E 6BT, UK","NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, WC1E 6BT, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London, UK","institution_ids":["https://openalex.org/I2800129641","https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025988686","display_name":"Juan A. Bot\u00eda","orcid":"https://orcid.org/0000-0002-6992-598X"},"institutions":[{"id":"https://openalex.org/I4210134576","display_name":"MRC Prion Unit","ror":"https://ror.org/043j90n04","country_code":"GB","type":"facility","lineage":["https://openalex.org/I124357947","https://openalex.org/I4210087105","https://openalex.org/I4210134576","https://openalex.org/I45129253","https://openalex.org/I90344618"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]},{"id":"https://openalex.org/I80180929","display_name":"Universidad de Murcia","ror":"https://ror.org/03p3aeb86","country_code":"ES","type":"education","lineage":["https://openalex.org/I80180929"]}],"countries":["ES","GB"],"is_corresponding":false,"raw_author_name":"Juan A. Bot\u00eda","raw_affiliation_strings":["Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain. juanbot@um.es","Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK. juanbot@um.es","Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK"],"raw_orcid":"https://orcid.org/0000-0002-6992-598X","affiliations":[{"raw_affiliation_string":"Departamento de Ingenier\u00eda de la Informaci\u00f3n y las Comunicaciones, Universidad de Murcia, Murcia, Spain. juanbot@um.es","institution_ids":["https://openalex.org/I80180929"]},{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK. juanbot@um.es","institution_ids":["https://openalex.org/I4210134576","https://openalex.org/I45129253"]},{"raw_affiliation_string":"Department of Neurodegenerative Disease, UCL, Institute of Neurology, London, UK","institution_ids":["https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":14,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I80180929"],"apc_list":{"value":1690,"currency":"GBP","value_usd":2072},"apc_paid":{"value":1690,"currency":"GBP","value_usd":2072},"fwci":0.3467,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.56867747,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":98},"biblio":{"volume":"23","issue":"1","first_page":"567","last_page":"567"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.843999981880188,"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":0.843999981880188,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.04899999871850014,"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/T11710","display_name":"Biomedical Text Mining and Ontologies","score":0.028999999165534973,"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/phenotype","display_name":"Phenotype","score":0.8548702001571655},{"id":"https://openalex.org/keywords/omim-online-mendelian-inheritance-in-man","display_name":"OMIM : Online Mendelian Inheritance in Man","score":0.6470576524734497},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5932618379592896},{"id":"https://openalex.org/keywords/set","display_name":"Set (abstract data type)","score":0.5472570657730103},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5229254961013794},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5126696825027466},{"id":"https://openalex.org/keywords/dna-microarray","display_name":"DNA microarray","score":0.44806021451950073},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4464148283004761},{"id":"https://openalex.org/keywords/database","display_name":"Database","score":0.4190857708454132},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3468543291091919},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.2877991199493408},{"id":"https://openalex.org/keywords/gene-expression","display_name":"Gene expression","score":0.15242335200309753}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.8548702001571655},{"id":"https://openalex.org/C191791410","wikidata":"https://www.wikidata.org/wiki/Q241953","display_name":"OMIM : Online Mendelian Inheritance in Man","level":4,"score":0.6470576524734497},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5932618379592896},{"id":"https://openalex.org/C177264268","wikidata":"https://www.wikidata.org/wiki/Q1514741","display_name":"Set (abstract data type)","level":2,"score":0.5472570657730103},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5229254961013794},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5126696825027466},{"id":"https://openalex.org/C95371953","wikidata":"https://www.wikidata.org/wiki/Q591745","display_name":"DNA microarray","level":4,"score":0.44806021451950073},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4464148283004761},{"id":"https://openalex.org/C77088390","wikidata":"https://www.wikidata.org/wiki/Q8513","display_name":"Database","level":1,"score":0.4190857708454132},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3468543291091919},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.2877991199493408},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.15242335200309753},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D010641","descriptor_name":"Phenotype","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":"D010641","descriptor_name":"Phenotype","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":"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":"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":"D016208","descriptor_name":"Databases, Factual","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","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":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","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":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1186/s12859-022-05122-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-022-05122-x","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-022-05122-x","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},{"id":"pmid:36587217","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36587217","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":"BMC bioinformatics","raw_type":null},{"id":"pmh:oai:doaj.org/article:43515d62e44a4e99a3d51759ad8602cb","is_oa":false,"landing_page_url":"https://doaj.org/article/43515d62e44a4e99a3d51759ad8602cb","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,"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":"BMC Bioinformatics, Vol 23, Iss 1, Pp 1-19 (2022)","raw_type":"article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10162693","is_oa":false,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10162693/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Bioinformatics , 23  (1)    , Article 567. (2022)","raw_type":"Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9805686","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9805686","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,"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":"BMC Bioinformatics","raw_type":"Text"},{"id":"pmh:oai:repository.hkust.edu.hk:1783.1-123424","is_oa":false,"landing_page_url":"http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=1471-2105&rft.volume=23&rft.issue=1&rft.date=2022&rft.spage=&rft.aulast=Cisterna&rft.aufirst=&rft.atitle=PhenoExam%3A+gene+set+analyses+through+integration+of+different+phenotype+databases&rft.title=BMC+Bioinformatics","pdf_url":null,"source":{"id":"https://openalex.org/S4306401796","display_name":"Rare & Special e-Zone (The Hong Kong University of Science and Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I200769079","host_organization_name":"Hong Kong University of Science and Technology","host_organization_lineage":["https://openalex.org/I200769079"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1186/s12859-022-05122-x","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12859-022-05122-x","pdf_url":"https://bmcbioinformatics.biomedcentral.com/counter/pdf/10.1186/s12859-022-05122-x","source":{"id":"https://openalex.org/S19032547","display_name":"BMC Bioinformatics","issn_l":"1471-2105","issn":["1471-2105"],"is_oa":true,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1029501714","display_name":null,"funder_award_id":"20762/FPI/18","funder_id":"https://openalex.org/F4320310087","funder_display_name":"Fundaci\u00f3n S\u00e9neca"},{"id":"https://openalex.org/G2461907907","display_name":null,"funder_award_id":"21230/PD/19","funder_id":"https://openalex.org/F4320310087","funder_display_name":"Fundaci\u00f3n S\u00e9neca"},{"id":"https://openalex.org/G3700906957","display_name":null,"funder_award_id":"MR/N008324/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G4315210197","display_name":null,"funder_award_id":"MR/N026004/","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G591874775","display_name":null,"funder_award_id":"00007/COVI/20","funder_id":"https://openalex.org/F4320310087","funder_display_name":"Fundaci\u00f3n S\u00e9neca"},{"id":"https://openalex.org/G6478429941","display_name":"Using transcriptomics to transform the diagnosis and understanding of inherited adult neurological disorders","funder_award_id":"MR/N008324/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6552739370","display_name":null,"funder_award_id":"MR/N026004/1","funder_id":"https://openalex.org/F4320334626","funder_display_name":"Medical Research Council"},{"id":"https://openalex.org/G6637424933","display_name":null,"funder_award_id":"202903/Z/16/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320310087","display_name":"Fundaci\u00f3n S\u00e9neca","ror":"https://ror.org/03q68pf65"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320319990","display_name":"National Institute for Health and Care Research","ror":"https://ror.org/0187kwz08"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4313396096.pdf","grobid_xml":"https://content.openalex.org/works/W4313396096.grobid-xml"},"referenced_works_count":71,"referenced_works":["https://openalex.org/W1541896354","https://openalex.org/W1543660680","https://openalex.org/W1574557215","https://openalex.org/W1644197353","https://openalex.org/W1974961721","https://openalex.org/W1978621236","https://openalex.org/W1994197804","https://openalex.org/W1996086117","https://openalex.org/W1997083143","https://openalex.org/W1998977949","https://openalex.org/W2006233587","https://openalex.org/W2012361142","https://openalex.org/W2016711503","https://openalex.org/W2036052128","https://openalex.org/W2039520076","https://openalex.org/W2058130483","https://openalex.org/W2059313072","https://openalex.org/W2079205800","https://openalex.org/W2081190770","https://openalex.org/W2088909263","https://openalex.org/W2089289079","https://openalex.org/W2089817566","https://openalex.org/W2099169745","https://openalex.org/W2101525666","https://openalex.org/W2104107436","https://openalex.org/W2107021160","https://openalex.org/W2110065044","https://openalex.org/W2111488123","https://openalex.org/W2111893944","https://openalex.org/W2117048468","https://openalex.org/W2120812632","https://openalex.org/W2127006085","https://openalex.org/W2133877762","https://openalex.org/W2136410628","https://openalex.org/W2142701631","https://openalex.org/W2157179071","https://openalex.org/W2159941448","https://openalex.org/W2162151166","https://openalex.org/W2162212014","https://openalex.org/W2162924547","https://openalex.org/W2164275045","https://openalex.org/W2165678172","https://openalex.org/W2170995646","https://openalex.org/W2195783463","https://openalex.org/W2419400782","https://openalex.org/W2465579571","https://openalex.org/W2592517432","https://openalex.org/W2616733389","https://openalex.org/W2733649580","https://openalex.org/W2773753532","https://openalex.org/W2790182135","https://openalex.org/W2794789117","https://openalex.org/W2809220255","https://openalex.org/W2884675284","https://openalex.org/W2886653650","https://openalex.org/W2900255713","https://openalex.org/W2915769855","https://openalex.org/W2949492942","https://openalex.org/W2956059837","https://openalex.org/W2960399794","https://openalex.org/W2978296444","https://openalex.org/W2980318882","https://openalex.org/W2983166786","https://openalex.org/W2984251519","https://openalex.org/W3005697799","https://openalex.org/W3047389785","https://openalex.org/W3093194543","https://openalex.org/W3136918052","https://openalex.org/W3164329676","https://openalex.org/W4213327946","https://openalex.org/W6639055396"],"related_works":["https://openalex.org/W4250615304","https://openalex.org/W2119412782","https://openalex.org/W4248234957","https://openalex.org/W2053767652","https://openalex.org/W3096901647","https://openalex.org/W4377014010","https://openalex.org/W4313396096","https://openalex.org/W3044103667","https://openalex.org/W4280623480","https://openalex.org/W2163786417"],"abstract_inverted_index":{"BACKGROUND:":[0],"Gene":[1],"set":[2,14,33,165],"enrichment":[3,58,92,158,161],"analysis":[4,59,162],"(detecting":[5],"phenotypic":[6],"terms":[7,81],"that":[8,199],"emerge":[9],"as":[10],"significant":[11,67,76,169,183],"in":[12,21,98],"a":[13,38,47,61,147],"of":[15,26,174],"genes)":[16],"plays":[17],"an":[18],"important":[19],"role":[20],"bioinformatics":[22],"focused":[23],"on":[24,60,163],"diseases":[25,104,116,209],"genetic":[27],"basis.":[28],"To":[29],"facilitate":[30],"phenotype-oriented":[31],"gene":[32,62,71,100,164,175,206],"analysis,":[34],"we":[35,130],"developed":[36,145],"PhenoExam,":[37,146],"freely":[39,148],"available":[40,149],"R":[41,150,215],"package":[42,151,216],"for":[43,50],"tool":[44,112],"developers":[45],"and":[46,56,73,89,118,152,159,178,180,196],"web":[48],"interface":[49],"users,":[51],"which":[52,155],"performs:":[53],"(1)":[54],"phenotype":[55,68,91,157,170],"disease":[57,80,160,187],"set;":[63],"(2)":[64],"measures":[65,167],"statistically":[66,168,182],"similarities":[69,123,171],"between":[70,172,205],"sets":[72,101,176,207],"(3)":[74],"detects":[75,181],"differential":[77],"phenotypes":[78,185],"or":[79,102,186,208],"across":[82,189],"different":[83,190],"databases.":[84,191],"RESULTS:":[85],"PhenoExam":[86,132],"generates":[87],"sensitive":[88],"accurate":[90],"analyses.":[93],"It":[94],"is":[95,201,218,224],"also":[96,125],"effective":[97],"segregating":[99],"Mendelian":[103],"with":[105,113,141,194,210],"very":[106,211],"similar":[107,115,212],"phenotypes.":[108,213],"We":[109,144,192],"tested":[110],"the":[111],"two":[114],"(Parkinson":[117],"dystonia),":[119],"to":[120,133,203],"show":[121],"phenotype-level":[122],"but":[124],"potentially":[126,139],"interesting":[127],"differences.":[128],"Moreover,":[129],"used":[131],"validate":[134],"computationally":[135],"predicted":[136],"new":[137],"genes":[138],"associated":[140],"epilepsy.":[142],"CONCLUSIONS:":[143],"Web":[153],"application,":[154],"performs":[156],"G,":[166],"pairs":[173],"G":[177],"G'":[179],"exclusive":[184],"terms,":[188],"proved":[193],"simulations":[195],"real":[197],"cases":[198],"it":[200],"useful":[202],"distinguish":[204],"Github":[214],"URL":[217,223],"https://github.com/alexcis95/PhenoExam":[219],".":[220,226],"Shiny":[221],"App":[222],"https://alejandrocisterna.shinyapps.io/phenoexamweb/":[225]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3}],"updated_date":"2026-05-06T08:25:59.206177","created_date":"2025-10-10T00:00:00"}