{"id":"https://openalex.org/W4205748098","doi":"https://doi.org/10.1093/bib/bbab524","title":"TP53_PROF: a machine learning model to predict impact of missense mutations in <i>TP53</i>","display_name":"TP53_PROF: a machine learning model to predict impact of missense mutations in <i>TP53</i>","publication_year":2021,"publication_date":"2021-11-15","ids":{"openalex":"https://openalex.org/W4205748098","doi":"https://doi.org/10.1093/bib/bbab524","pmid":"https://pubmed.ncbi.nlm.nih.gov/35043155"},"language":"en","primary_location":{"id":"doi:10.1093/bib/bbab524","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbab524","pdf_url":"https://academic.oup.com/bib/article-pdf/23/2/bbab524/42805629/bbab524.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"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":"Briefings in 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/bib/article-pdf/23/2/bbab524/42805629/bbab524.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090744256","display_name":"Gil Ben Cohen","orcid":"https://orcid.org/0000-0001-8857-6124"},"institutions":[{"id":"https://openalex.org/I197251160","display_name":"Hebrew University of Jerusalem","ror":"https://ror.org/03qxff017","country_code":"IL","type":"education","lineage":["https://openalex.org/I197251160"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Gil Ben-Cohen","raw_affiliation_strings":["Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","The Wohl Institute for Translational Medicine, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel"],"raw_orcid":"https://orcid.org/0000-0001-8857-6124","affiliations":[{"raw_affiliation_string":"Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409","https://openalex.org/I197251160"]},{"raw_affiliation_string":"The Wohl Institute for Translational Medicine, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409","https://openalex.org/I197251160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013669950","display_name":"Flora Doffe","orcid":"https://orcid.org/0000-0002-0136-424X"},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Flora Doffe","raw_affiliation_strings":["INSERM UMR 1186, Integrative Tumor Immunology and Immunotherapy, Gustave Roussy, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Sud, Universit\u00e9 Paris-Saclay, 94805 Villejuif, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM UMR 1186, Integrative Tumor Immunology and Immunotherapy, Gustave Roussy, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Sud, Universit\u00e9 Paris-Saclay, 94805 Villejuif, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I102197404","https://openalex.org/I277688954"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013921023","display_name":"Michal Devir","orcid":null},"institutions":[{"id":"https://openalex.org/I197251160","display_name":"Hebrew University of Jerusalem","ror":"https://ror.org/03qxff017","country_code":"IL","type":"education","lineage":["https://openalex.org/I197251160"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Michal Devir","raw_affiliation_strings":["Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","The Wohl Institute for Translational Medicine, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409","https://openalex.org/I197251160"]},{"raw_affiliation_string":"The Wohl Institute for Translational Medicine, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409","https://openalex.org/I197251160"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110466919","display_name":"Bernard Leroy","orcid":null},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Bernard Leroy","raw_affiliation_strings":["Sorbonne Universit\u00e9, UPMC Univ Paris 06, F- 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sorbonne Universit\u00e9, UPMC Univ Paris 06, F- 75005 Paris, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I39804081"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074017962","display_name":"Thierry Soussi","orcid":"https://orcid.org/0000-0001-8184-3293"},"institutions":[{"id":"https://openalex.org/I123387679","display_name":"Uppsala University","ror":"https://ror.org/048a87296","country_code":"SE","type":"education","lineage":["https://openalex.org/I123387679"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210092322","display_name":"Centre de Recherche des Cordeliers","ror":"https://ror.org/00dmms154","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I39804081","https://openalex.org/I4210092322"]}],"countries":["FR","SE"],"is_corresponding":false,"raw_author_name":"Thierry Soussi","raw_affiliation_strings":["Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden","INSERM, U1138, Centre de Recherche des Cordeliers, Paris, France","Sorbonne Universit\u00e9, UPMC Univ Paris 06, F- 75005 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden","institution_ids":["https://openalex.org/I123387679"]},{"raw_affiliation_string":"INSERM, U1138, Centre de Recherche des Cordeliers, Paris, France","institution_ids":["https://openalex.org/I4210092322","https://openalex.org/I154526488"]},{"raw_affiliation_string":"Sorbonne Universit\u00e9, UPMC Univ Paris 06, F- 75005 Paris, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I39804081"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5017738786","display_name":"Shai Rosenberg","orcid":"https://orcid.org/0000-0001-6309-6933"},"institutions":[{"id":"https://openalex.org/I197251160","display_name":"Hebrew University of Jerusalem","ror":"https://ror.org/03qxff017","country_code":"IL","type":"education","lineage":["https://openalex.org/I197251160"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Shai Rosenberg","raw_affiliation_strings":["Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","The Wohl Institute for Translational Medicine, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409","https://openalex.org/I197251160"]},{"raw_affiliation_string":"The Wohl Institute for Translational Medicine, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409","https://openalex.org/I197251160"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5017738786","https://openalex.org/A5090744256"],"corresponding_institution_ids":["https://openalex.org/I197251160","https://openalex.org/I2799899409"],"apc_list":{"value":4011,"currency":"USD","value_usd":4011},"apc_paid":{"value":4011,"currency":"USD","value_usd":4011},"fwci":1.3555,"has_fulltext":false,"cited_by_count":20,"citation_normalized_percentile":{"value":0.84314077,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"23","issue":"2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10583","display_name":"Cancer-related Molecular Pathways","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T10583","display_name":"Cancer-related Molecular Pathways","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T11287","display_name":"Cancer Genomics and Diagnostics","score":0.9977999925613403,"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"}},{"id":"https://openalex.org/T10269","display_name":"Epigenetics and DNA Methylation","score":0.977400004863739,"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/missense-mutation","display_name":"Missense mutation","score":0.8557518124580383},{"id":"https://openalex.org/keywords/germline-mutation","display_name":"Germline mutation","score":0.6140161752700806},{"id":"https://openalex.org/keywords/germline","display_name":"Germline","score":0.5782507061958313},{"id":"https://openalex.org/keywords/machine-learning","display_name":"Machine learning","score":0.5309215188026428},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.5013680458068848},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.47775378823280334},{"id":"https://openalex.org/keywords/artificial-intelligence","display_name":"Artificial intelligence","score":0.4536541998386383},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4535752534866333},{"id":"https://openalex.org/keywords/precision-medicine","display_name":"Precision medicine","score":0.44763100147247314},{"id":"https://openalex.org/keywords/genomics","display_name":"Genomics","score":0.4113406240940094},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.354974627494812},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.34038540720939636},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.3124023675918579},{"id":"https://openalex.org/keywords/genome","display_name":"Genome","score":0.1572815179824829}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8557518124580383},{"id":"https://openalex.org/C13514818","wikidata":"https://www.wikidata.org/wiki/Q5552256","display_name":"Germline mutation","level":4,"score":0.6140161752700806},{"id":"https://openalex.org/C109825262","wikidata":"https://www.wikidata.org/wiki/Q1139164","display_name":"Germline","level":3,"score":0.5782507061958313},{"id":"https://openalex.org/C119857082","wikidata":"https://www.wikidata.org/wiki/Q2539","display_name":"Machine learning","level":1,"score":0.5309215188026428},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5013680458068848},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.47775378823280334},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.4536541998386383},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4535752534866333},{"id":"https://openalex.org/C163763905","wikidata":"https://www.wikidata.org/wiki/Q17075943","display_name":"Precision medicine","level":2,"score":0.44763100147247314},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.4113406240940094},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.354974627494812},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.34038540720939636},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3124023675918579},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.1572815179824829}],"mesh":[{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000069550","descriptor_name":"Machine Learning","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":"D016159","descriptor_name":"Tumor Suppressor Protein p53","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016159","descriptor_name":"Tumor Suppressor Protein p53","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016159","descriptor_name":"Tumor Suppressor Protein p53","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016864","descriptor_name":"Li-Fraumeni Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016864","descriptor_name":"Li-Fraumeni Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016864","descriptor_name":"Li-Fraumeni Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D057285","descriptor_name":"Precision Medicine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bib/bbab524","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbab524","pdf_url":"https://academic.oup.com/bib/article-pdf/23/2/bbab524/42805629/bbab524.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"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":"Briefings in Bioinformatics","raw_type":"journal-article"},{"id":"pmid:35043155","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35043155","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":"Briefings in bioinformatics","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:8921628","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8921628","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":"Brief Bioinform","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bib/bbab524","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bib/bbab524","pdf_url":"https://academic.oup.com/bib/article-pdf/23/2/bbab524/42805629/bbab524.pdf","source":{"id":"https://openalex.org/S91767247","display_name":"Briefings in Bioinformatics","issn_l":"1467-5463","issn":["1467-5463","1477-4054"],"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":"Briefings in Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":73,"referenced_works":["https://openalex.org/W1678356000","https://openalex.org/W1846422913","https://openalex.org/W1917587879","https://openalex.org/W1970015742","https://openalex.org/W1975450675","https://openalex.org/W1990508187","https://openalex.org/W1996195054","https://openalex.org/W2026263500","https://openalex.org/W2037147972","https://openalex.org/W2041908101","https://openalex.org/W2051978340","https://openalex.org/W2058701056","https://openalex.org/W2066154992","https://openalex.org/W2072572998","https://openalex.org/W2076865561","https://openalex.org/W2082426444","https://openalex.org/W2087588809","https://openalex.org/W2097998348","https://openalex.org/W2103724490","https://openalex.org/W2108643617","https://openalex.org/W2110523744","https://openalex.org/W2118530896","https://openalex.org/W2122059211","https://openalex.org/W2123636830","https://openalex.org/W2125356853","https://openalex.org/W2154866190","https://openalex.org/W2168143310","https://openalex.org/W2223661640","https://openalex.org/W2233494104","https://openalex.org/W2256016639","https://openalex.org/W2309021002","https://openalex.org/W2507924618","https://openalex.org/W2521967673","https://openalex.org/W2550922585","https://openalex.org/W2559537906","https://openalex.org/W2582016570","https://openalex.org/W2582743722","https://openalex.org/W2587204086","https://openalex.org/W2591837371","https://openalex.org/W2594796471","https://openalex.org/W2613362156","https://openalex.org/W2614443510","https://openalex.org/W2752942423","https://openalex.org/W2766554925","https://openalex.org/W2766720393","https://openalex.org/W2770026599","https://openalex.org/W2773354488","https://openalex.org/W2789078984","https://openalex.org/W2804131464","https://openalex.org/W2868860358","https://openalex.org/W2891731267","https://openalex.org/W2912820293","https://openalex.org/W2949492942","https://openalex.org/W2963784637","https://openalex.org/W2964649258","https://openalex.org/W2988868150","https://openalex.org/W3005785247","https://openalex.org/W3008303614","https://openalex.org/W3042956293","https://openalex.org/W3048346072","https://openalex.org/W3050921496","https://openalex.org/W3108268157","https://openalex.org/W3108301094","https://openalex.org/W3177514699","https://openalex.org/W3209435229","https://openalex.org/W4232186666","https://openalex.org/W6640254672","https://openalex.org/W6663267730","https://openalex.org/W6674385629","https://openalex.org/W6732549612","https://openalex.org/W6738337739","https://openalex.org/W6758523139","https://openalex.org/W6870084398"],"related_works":["https://openalex.org/W4296060409","https://openalex.org/W2613868166","https://openalex.org/W2067324420","https://openalex.org/W4247239363","https://openalex.org/W4221137512","https://openalex.org/W2322817515","https://openalex.org/W3216631139","https://openalex.org/W2009580730","https://openalex.org/W3098236227","https://openalex.org/W2041452721"],"abstract_inverted_index":{"Correctly":[0],"identifying":[1],"the":[2,42,46,68,94,190],"true":[3],"driver":[4],"mutations":[5,150,184],"in":[6,14,76,102,189],"a":[7,11,50,60],"patient's":[8],"tumor":[9],"is":[10,33],"major":[12],"challenge":[13],"precision":[15],"oncology.":[16],"Most":[17],"efforts":[18],"address":[19],"frequent":[20],"mutations,":[21,40],"leaving":[22],"medium-":[23],"and":[24,38,81,118,128,165,174,185],"low-frequency":[25],"variants":[26],"mostly":[27],"unaddressed.":[28],"For":[29],"TP53,":[30,77],"this":[31],"identification":[32],"crucial":[34],"for":[35,93,152],"both":[36],"somatic":[37],"germline":[39],"with":[41,45,87],"latter":[43],"associated":[44],"Li-Fraumeni":[47],"syndrome":[48],"(LFS),":[49],"multiorgan":[51],"cancer":[52,104,195],"predisposition.":[53],"We":[54],"present":[55],"TP53_PROF":[56,143],"(prediction":[57],"of":[58,71,100,112,141,147],"functionality),":[59],"gene":[61,156],"specific":[62,157],"machine":[63,160],"learning":[64],"model":[65],"to":[66,121,129,168,192],"predict":[67],"functional":[69,83],"consequences":[70],"every":[72],"possible":[73],"missense":[74,149],"mutation":[75],"integrating":[78],"human":[79],"cell-":[80],"yeast-based":[82],"assays":[84],"scores":[85],"along":[86],"computational":[88],"scores.":[89],"Variants":[90],"were":[91,115,119],"labeled":[92],"training":[95],"set":[96],"using":[97],"well-defined":[98],"criteria":[99],"prevalence":[101],"four":[103],"genomics":[105],"databases.":[106],"The":[107],"model's":[108],"predictions":[109],"provided":[110],"accuracy":[111,135],"96.5%.":[113],"They":[114],"validated":[116,173],"experimentally,":[117],"compared":[120],"population":[122],"data,":[123],"LFS":[124],"datasets,":[125],"ClinVar":[126],"annotations":[127],"TCGA":[130],"survival":[131],"data.":[132],"Very":[133],"high":[134],"was":[136],"shown":[137],"through":[138],"all":[139],"methods":[140],"validation.":[142],"allows":[144],"accurate":[145],"classification":[146,177],"TP53":[148,183],"applicable":[151],"clinical":[153],"practice.":[154],"Our":[155],"approach":[158,180],"integrated":[159],"learning,":[161],"highly":[162],"reliable":[163],"features":[164],"biological":[166],"knowledge,":[167],"create":[169],"an":[170],"unprecedented,":[171],"thoroughly":[172],"clinically":[175],"oriented":[176],"model.":[178],"This":[179],"currently":[181],"addresses":[182],"will":[186],"be":[187],"applied":[188],"future":[191],"other":[193],"important":[194],"genes.":[196]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":1}],"updated_date":"2026-05-21T06:26:12.895304","created_date":"2022-01-26T00:00:00"}