{"id":"https://openalex.org/W4324128701","doi":"https://doi.org/10.1093/bioinformatics/btad128","title":"vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines","display_name":"vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines","publication_year":2023,"publication_date":"2023-03-01","ids":{"openalex":"https://openalex.org/W4324128701","doi":"https://doi.org/10.1093/bioinformatics/btad128","pmid":"https://pubmed.ncbi.nlm.nih.gov/36916756"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btad128","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad128","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/39/3/btad128/49598250/btad128.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"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":"gold","oa_url":"https://academic.oup.com/bioinformatics/article-pdf/39/3/btad128/49598250/btad128.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5047341902","display_name":"Elisabet Munt\u00e9","orcid":"https://orcid.org/0000-0001-8396-8284"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Elisabet Munt\u00e9","raw_affiliation_strings":["Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080634247","display_name":"L\u00eddia Feliubadal\u00f3","orcid":"https://orcid.org/0000-0002-1736-0112"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]},{"id":"https://openalex.org/I4210158561","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer","ror":"https://ror.org/04hya7017","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210158561"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Lidia Feliubadal\u00f3","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","institution_ids":["https://openalex.org/I4210158561"]},{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081203668","display_name":"Marta Pineda","orcid":"https://orcid.org/0000-0002-5403-5845"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]},{"id":"https://openalex.org/I4210158561","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer","ror":"https://ror.org/04hya7017","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210158561"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Marta Pineda","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","institution_ids":["https://openalex.org/I4210158561"]},{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061576221","display_name":"Eva Tornero","orcid":"https://orcid.org/0009-0003-8960-2701"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Eva Tornero","raw_affiliation_strings":["Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Maribel Gonzalez","orcid":null},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Maribel Gonzalez","raw_affiliation_strings":["Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080345196","display_name":"Jos\u00e9 Marcos Moreno-Cabrera","orcid":"https://orcid.org/0000-0001-8570-0345"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jos\u00e9 Marcos Moreno-Cabrera","raw_affiliation_strings":["Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081856148","display_name":"Carla Roca","orcid":"https://orcid.org/0000-0003-1171-0588"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Carla Roca","raw_affiliation_strings":["Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008012658","display_name":"Joan Bales Rubio","orcid":null},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Joan Bales Rubio","raw_affiliation_strings":["Department of Information Technologies, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Information Technologies, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053185159","display_name":"Laura Arnaldo","orcid":"https://orcid.org/0000-0003-1654-0573"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Laura Arnaldo","raw_affiliation_strings":["Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036172060","display_name":"Gabriel Capell\u00e1","orcid":"https://orcid.org/0000-0002-4669-7320"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]},{"id":"https://openalex.org/I4210158561","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer","ror":"https://ror.org/04hya7017","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210158561"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Gabriel Capell\u00e1","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","institution_ids":["https://openalex.org/I4210158561"]},{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011084022","display_name":"Jos\u00e9 Luis Mosquera","orcid":"https://orcid.org/0000-0002-7852-4993"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Jose Luis Mosquera","raw_affiliation_strings":["Department of Bioinformatics, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Department of Bioinformatics, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210087039"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070254609","display_name":"Conxi L\u00e1zaro","orcid":"https://orcid.org/0000-0002-7198-5906"},"institutions":[{"id":"https://openalex.org/I4210087039","display_name":"Institut d'Investigaci\u00f3 Biom\u00e9dica de Bellvitge","ror":"https://ror.org/0008xqs48","country_code":"ES","type":"facility","lineage":["https://openalex.org/I157913058","https://openalex.org/I2802050225","https://openalex.org/I4210087039","https://openalex.org/I4210096656","https://openalex.org/I4210106543","https://openalex.org/I4210107147","https://openalex.org/I4210153292","https://openalex.org/I4387153040","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I4210107147","display_name":"Institut Catal\u00e0 d'Oncologia","ror":"https://ror.org/01j1eb875","country_code":"ES","type":"government","lineage":["https://openalex.org/I4210107147"]},{"id":"https://openalex.org/I4210158561","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer","ror":"https://ror.org/04hya7017","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210158561"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Conxi L\u00e1zaro","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain"],"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC) , Madrid, Spain","institution_ids":["https://openalex.org/I4210158561"]},{"raw_affiliation_string":"Hereditary Cancer Program, Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Catalan Institute of Oncology , L\u2019Hospitalet de Llobregat 08908, Spain","institution_ids":["https://openalex.org/I4210107147","https://openalex.org/I4210087039"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":["https://openalex.org/A5011084022","https://openalex.org/A5070254609","https://openalex.org/A5080634247"],"corresponding_institution_ids":["https://openalex.org/I4210087039","https://openalex.org/I4210107147","https://openalex.org/I4210158561"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":3.241,"has_fulltext":true,"cited_by_count":13,"citation_normalized_percentile":{"value":0.91422127,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"39","issue":"3","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9995999932289124,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.9995999932289124,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9991000294685364,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/software-package","display_name":"Software package","score":0.5957541465759277},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.5871875882148743},{"id":"https://openalex.org/keywords/automation","display_name":"Automation","score":0.5185214281082153},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.49100497364997864},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.44726648926734924},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.44202908873558044},{"id":"https://openalex.org/keywords/medical-genetics","display_name":"Medical genetics","score":0.42880746722221375},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.3528565764427185},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.34361356496810913},{"id":"https://openalex.org/keywords/software","display_name":"Software","score":0.30191653966903687},{"id":"https://openalex.org/keywords/programming-language","display_name":"Programming language","score":0.1835435926914215},{"id":"https://openalex.org/keywords/engineering","display_name":"Engineering","score":0.11313989758491516}],"concepts":[{"id":"https://openalex.org/C3020440742","wikidata":"https://www.wikidata.org/wiki/Q1176855","display_name":"Software package","level":3,"score":0.5957541465759277},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5871875882148743},{"id":"https://openalex.org/C115901376","wikidata":"https://www.wikidata.org/wiki/Q184199","display_name":"Automation","level":2,"score":0.5185214281082153},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.49100497364997864},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44726648926734924},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.44202908873558044},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.42880746722221375},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3528565764427185},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34361356496810913},{"id":"https://openalex.org/C2777904410","wikidata":"https://www.wikidata.org/wiki/Q7397","display_name":"Software","level":2,"score":0.30191653966903687},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.1835435926914215},{"id":"https://openalex.org/C127413603","wikidata":"https://www.wikidata.org/wiki/Q11023","display_name":"Engineering","level":0,"score":0.11313989758491516},{"id":"https://openalex.org/C78519656","wikidata":"https://www.wikidata.org/wiki/Q101333","display_name":"Mechanical engineering","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001331","descriptor_name":"Automation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001331","descriptor_name":"Automation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001331","descriptor_name":"Automation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009369","descriptor_name":"Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014481","descriptor_name":"United States","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014481","descriptor_name":"United States","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014481","descriptor_name":"United States","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":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/bioinformatics/btad128","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad128","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/39/3/btad128/49598250/btad128.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"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:36916756","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/36916756","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:pubmedcentral.nih.gov:10032633","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10032633","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10032633/pdf/btad128.pdf","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"},{"id":"pmh:oai:diposit.ub.edu:2445/224336","is_oa":true,"landing_page_url":"https://hdl.handle.net/2445/224336","pdf_url":null,"source":{"id":"https://openalex.org/S4306401653","display_name":"Dip\u00f2sit Digital de la Universitat de Barcelona (Universitat de Barcelona)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I71999127","host_organization_name":"Universitat de Barcelona","host_organization_lineage":["https://openalex.org/I71999127"],"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":"Articles publicats en revistes (Institut d'lnvestigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL))","raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btad128","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btad128","pdf_url":"https://academic.oup.com/bioinformatics/article-pdf/39/3/btad128/49598250/btad128.pdf","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":true,"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":[{"score":0.47999998927116394,"id":"https://metadata.un.org/sdg/17","display_name":"Partnerships for the goals"}],"awards":[{"id":"https://openalex.org/G1005780333","display_name":null,"funder_award_id":"2017SGR496","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G2351082323","display_name":null,"funder_award_id":"2017SGR1","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G3523929155","display_name":null,"funder_award_id":"PI19/00553","funder_id":"https://openalex.org/F4320315803","funder_display_name":"Centres de Recerca de Catalunya"},{"id":"https://openalex.org/G4034820008","display_name":null,"funder_award_id":"PERIS_MedPerCan","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G472080433","display_name":null,"funder_award_id":"PI19/00553","funder_id":"https://openalex.org/F4320321595","funder_display_name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras"},{"id":"https://openalex.org/G5438109271","display_name":null,"funder_award_id":"2017SGR496","funder_id":"https://openalex.org/F4320328325","funder_display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer"},{"id":"https://openalex.org/G5658388395","display_name":null,"funder_award_id":"CERCA","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G6927196755","display_name":null,"funder_award_id":"2017SGR128","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G7065380795","display_name":null,"funder_award_id":"2021SGR01112","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G7832233575","display_name":null,"funder_award_id":"URDCat","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G7897750139","display_name":null,"funder_award_id":"2017SGR1282","funder_id":"https://openalex.org/F4320321505","funder_display_name":"Generalitat de Catalunya"},{"id":"https://openalex.org/G8104449165","display_name":null,"funder_award_id":"CB16/12/00234","funder_id":"https://openalex.org/F4320328325","funder_display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer"},{"id":"https://openalex.org/G822659861","display_name":null,"funder_award_id":"2017SGR1282","funder_id":"https://openalex.org/F4320328325","funder_display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer"}],"funders":[{"id":"https://openalex.org/F4320315803","display_name":"Centres de Recerca de Catalunya","ror":null},{"id":"https://openalex.org/F4320321505","display_name":"Generalitat de Catalunya","ror":"https://ror.org/01bg62x04"},{"id":"https://openalex.org/F4320321595","display_name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras","ror":"https://ror.org/0348bpk17"},{"id":"https://openalex.org/F4320322930","display_name":"Ministerio de Ciencia e Innovaci\u00f3n","ror":"https://ror.org/034900433"},{"id":"https://openalex.org/F4320328325","display_name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer","ror":null},{"id":"https://openalex.org/F4320335503","display_name":"Departament de Salut, Generalitat de Catalunya","ror":null}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4324128701.pdf"},"referenced_works_count":43,"referenced_works":["https://openalex.org/W1504535992","https://openalex.org/W2033990985","https://openalex.org/W2051978340","https://openalex.org/W2110065044","https://openalex.org/W2154866190","https://openalex.org/W2298876126","https://openalex.org/W2356454710","https://openalex.org/W2578727015","https://openalex.org/W2580887223","https://openalex.org/W2598515088","https://openalex.org/W2612091911","https://openalex.org/W2644214480","https://openalex.org/W2770026599","https://openalex.org/W2773983461","https://openalex.org/W2781534540","https://openalex.org/W2789467029","https://openalex.org/W2793042937","https://openalex.org/W2887949697","https://openalex.org/W2896403068","https://openalex.org/W2896597270","https://openalex.org/W2897315653","https://openalex.org/W2909194804","https://openalex.org/W2930388646","https://openalex.org/W2949857618","https://openalex.org/W2950919247","https://openalex.org/W2952683165","https://openalex.org/W2952728907","https://openalex.org/W2967605415","https://openalex.org/W2980975259","https://openalex.org/W3005785247","https://openalex.org/W3009624553","https://openalex.org/W3029661147","https://openalex.org/W3045929934","https://openalex.org/W3084552054","https://openalex.org/W3102158843","https://openalex.org/W3111162271","https://openalex.org/W3127327661","https://openalex.org/W3159491125","https://openalex.org/W3177514699","https://openalex.org/W3185096629","https://openalex.org/W3216782976","https://openalex.org/W4206841660","https://openalex.org/W6766612462"],"related_works":["https://openalex.org/W2519676117","https://openalex.org/W2218202131","https://openalex.org/W2155740880","https://openalex.org/W84108837","https://openalex.org/W2149263892","https://openalex.org/W4235496431","https://openalex.org/W2155302041","https://openalex.org/W3207560769","https://openalex.org/W1990412843","https://openalex.org/W3042945901"],"abstract_inverted_index":{"The":[0],"source":[1],"code":[2],"can":[3],"be":[4,14],"consulted":[5],"in":[6],"the":[7],"GitHub":[8],"repository":[9],"(https://github.com/emunte/vaRHC)":[10],"Additionally,":[11],"it":[12],"will":[13],"submitted":[15],"to":[16],"CRAN":[17],"soon.":[18]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1}],"updated_date":"2026-04-18T07:56:08.524223","created_date":"2025-10-10T00:00:00"}