{"id":"https://openalex.org/W2012806122","doi":"https://doi.org/10.1198/016214504000001817","title":"Classification of Missense Mutations of Disease Genes","display_name":"Classification of Missense Mutations of Disease Genes","publication_year":2005,"publication_date":"2005-02-10","ids":{"openalex":"https://openalex.org/W2012806122","doi":"https://doi.org/10.1198/016214504000001817","mag":"2012806122","pmid":"https://pubmed.ncbi.nlm.nih.gov/18418466"},"language":"en","primary_location":{"id":"doi:10.1198/016214504000001817","doi":"https://doi.org/10.1198/016214504000001817","is_oa":false,"landing_page_url":"https://doi.org/10.1198/016214504000001817","pdf_url":null,"source":{"id":"https://openalex.org/S4394736638","display_name":"Journal of the American Statistical Association","issn_l":"0162-1459","issn":["0162-1459","1537-274X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["abdc-a-star","anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Statistical Association","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2311507","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101501912","display_name":"Xi Zhou","orcid":"https://orcid.org/0009-0008-2499-5918","observed_orcids":["https://orcid.org/0009-0008-2499-5918"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I4210164401","display_name":"Sidney Kimmel Comprehensive Cancer Center","ror":"https://ror.org/05m5b8x20","country_code":"US","type":"facility","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210164401"]},{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xi Zhou","raw_affiliation_strings":["Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 (E-mail:  kaz2004@med.cornell.edu ). Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 (E-mail:  iversen@stat.duke.edu ). Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 (E-mail:  gp@jhu.edu )","Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 . Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 . Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 . The authors thank Ken Kinzler for providing input on our use of genetic terminology. This work was funded in part by the National Cancer Institute through the Specialized Program of Research Excellence (SPORE) in Breast Cancer at Duke University (P50 CA68438), the Innovative Pilot Research in Cancer Control Science Program at Duke University (CA14236SUB38), and the Cancer Genetics Network at Duke University (U24 CA78157), and at Johns Hopkins University (U24 CA78148)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 (E-mail:  kaz2004@med.cornell.edu ). Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 (E-mail:  iversen@stat.duke.edu ). Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 (E-mail:  gp@jhu.edu )","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I170897317","https://openalex.org/I205783295","https://openalex.org/I4210164401","https://openalex.org/I4387153466"]},{"raw_affiliation_string":"Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 . Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 . Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 . The authors thank Ken Kinzler for providing input on our use of genetic terminology. This work was funded in part by the National Cancer Institute through the Specialized Program of Research Excellence (SPORE) in Breast Cancer at Duke University (P50 CA68438), the Innovative Pilot Research in Cancer Control Science Program at Duke University (CA14236SUB38), and the Cancer Genetics Network at Duke University (U24 CA78157), and at Johns Hopkins University (U24 CA78148)","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I170897317","https://openalex.org/I205783295","https://openalex.org/I4210164401","https://openalex.org/I4387153466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088726636","display_name":"Edwin S. Iversen","orcid":"https://orcid.org/0000-0002-0066-2763","observed_orcids":["https://orcid.org/0000-0002-0066-2763"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I4210164401","display_name":"Sidney Kimmel Comprehensive Cancer Center","ror":"https://ror.org/05m5b8x20","country_code":"US","type":"facility","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210164401"]},{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Edwin S Iversen","raw_affiliation_strings":["Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 . Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 . Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 . The authors thank Ken Kinzler for providing input on our use of genetic terminology. This work was funded in part by the National Cancer Institute through the Specialized Program of Research Excellence (SPORE) in Breast Cancer at Duke University (P50 CA68438), the Innovative Pilot Research in Cancer Control Science Program at Duke University (CA14236SUB38), and the Cancer Genetics Network at Duke University (U24 CA78157), and at Johns Hopkins University (U24 CA78148)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 . Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 . Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 . The authors thank Ken Kinzler for providing input on our use of genetic terminology. This work was funded in part by the National Cancer Institute through the Specialized Program of Research Excellence (SPORE) in Breast Cancer at Duke University (P50 CA68438), the Innovative Pilot Research in Cancer Control Science Program at Duke University (CA14236SUB38), and the Cancer Genetics Network at Duke University (U24 CA78157), and at Johns Hopkins University (U24 CA78148)","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I170897317","https://openalex.org/I205783295","https://openalex.org/I4210164401","https://openalex.org/I4387153466"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050977500","display_name":"Giovanni Parmigiani","orcid":"https://orcid.org/0000-0002-8783-5961","observed_orcids":["https://orcid.org/0000-0002-8783-5961"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I205783295","display_name":"Cornell University","ror":"https://ror.org/05bnh6r87","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295"]},{"id":"https://openalex.org/I4210164401","display_name":"Sidney Kimmel Comprehensive Cancer Center","ror":"https://ror.org/05m5b8x20","country_code":"US","type":"facility","lineage":["https://openalex.org/I2799853436","https://openalex.org/I4210164401"]},{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Giovanni Parmigiani","raw_affiliation_strings":["Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 . Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 . Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 . The authors thank Ken Kinzler for providing input on our use of genetic terminology. This work was funded in part by the National Cancer Institute through the Specialized Program of Research Excellence (SPORE) in Breast Cancer at Duke University (P50 CA68438), the Innovative Pilot Research in Cancer Control Science Program at Duke University (CA14236SUB38), and the Cancer Genetics Network at Duke University (U24 CA78157), and at Johns Hopkins University (U24 CA78148)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Xi Zhou is Instructor, Division of Biostatistics, Department of Public Health, Weill Medical College of Cornell University, New York, NY 10021 . Edwin S. Iversen is Assistant Research Professor, Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27708 . Giovanni Parmigiani is Associate Professor, Departments of Oncology, Biostatistics, and Pathology, The Sidney Kimmel Comprehensive Cancer Center, School of Medicine, Johns Hopkins University, Baltimore, MD 21205 . The authors thank Ken Kinzler for providing input on our use of genetic terminology. This work was funded in part by the National Cancer Institute through the Specialized Program of Research Excellence (SPORE) in Breast Cancer at Duke University (P50 CA68438), the Innovative Pilot Research in Cancer Control Science Program at Duke University (CA14236SUB38), and the Cancer Genetics Network at Duke University (U24 CA78157), and at Johns Hopkins University (U24 CA78148)","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I170897317","https://openalex.org/I205783295","https://openalex.org/I4210164401","https://openalex.org/I4387153466"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6722,"has_fulltext":false,"cited_by_count":24,"citation_normalized_percentile":{"value":0.68532841,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"100","issue":"469","first_page":"51","last_page":"60"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.9779999852180481,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.9779999852180481,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.01360000018030405,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.006800000090152025,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.996999979019165},{"id":"https://openalex.org/keywords/bayesian-hierarchical-model","display_name":"Bayesian hierarchical model","score":0.968999981880188},{"id":"https://openalex.org/keywords/pedigree-data","display_name":"pedigree data","score":0.7509999871253967},{"id":"https://openalex.org/keywords/ascertainment-bias","display_name":"ascertainment bias","score":0.8379999995231628},{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.824999988079071},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/familial-risk","display_name":"familial risk","score":0.43700000643730164}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.8398942947387695},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.6280895471572876},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.6183983683586121},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5692445039749146},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5371288657188416},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5239675045013428},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.444114089012146},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3993423879146576},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.39200448989868164},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.280531108379364},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.13341465592384338}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.1198/016214504000001817","doi":"https://doi.org/10.1198/016214504000001817","is_oa":false,"landing_page_url":"https://doi.org/10.1198/016214504000001817","pdf_url":null,"source":{"id":"https://openalex.org/S4394736638","display_name":"Journal of the American Statistical Association","issn_l":"0162-1459","issn":["0162-1459","1537-274X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["abdc-a-star","anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American Statistical Association","raw_type":"journal-article"},{"id":"pmid:18418466","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18418466","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,"listed_in":[],"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":"Journal of the American Statistical Association","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2311507","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2311507","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,"listed_in":[],"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J Am Stat Assoc","raw_type":"Text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.13.7758","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.13.7758","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://ftp.isds.duke.edu/WorkingPapers/02-21.ps","raw_type":"text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.695.8544","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.695.8544","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://bcb.dfci.harvard.edu/bayesmendel/p51.pdf","raw_type":"text"},{"id":"pmh:oai:RePEc:bes:jnlasa:v:100:y:2005:p:51-60","doi":null,"is_oa":false,"landing_page_url":"http://www.ingentaconnect.com/content/asa/jasa/2005/00000100/00000469/art00006","pdf_url":null,"source":{"id":"https://openalex.org/S4306401271","display_name":"RePEc: Research Papers in Economics","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I77793887","host_organization_name":"Federal Reserve Bank of St. Louis","host_organization_lineage":["https://openalex.org/I77793887"],"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":"pmh:oai:pubmedcentral.nih.gov:2311507","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2311507","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,"listed_in":[],"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":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J Am Stat Assoc","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G1174881085","display_name":null,"funder_award_id":"P30\u2010CA014236","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G2267469104","display_name":null,"funder_award_id":"P50 CA 068438","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G4297966577","display_name":null,"funder_award_id":"U24CA078157","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G7429540691","display_name":"Statistical Methods for Cancer Genes","funder_award_id":"R01CA105090","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G911426999","display_name":null,"funder_award_id":"U24 CA078148","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":50,"referenced_works":["https://openalex.org/W29491502","https://openalex.org/W46180618","https://openalex.org/W121553317","https://openalex.org/W388940028","https://openalex.org/W1499379539","https://openalex.org/W1543201209","https://openalex.org/W1563075630","https://openalex.org/W1567424149","https://openalex.org/W1640114211","https://openalex.org/W1757459660","https://openalex.org/W1912231030","https://openalex.org/W1944723793","https://openalex.org/W1973231920","https://openalex.org/W1982922267","https://openalex.org/W1984369236","https://openalex.org/W1991311566","https://openalex.org/W1992555882","https://openalex.org/W1999401528","https://openalex.org/W2005351661","https://openalex.org/W2023706504","https://openalex.org/W2030093162","https://openalex.org/W2031554140","https://openalex.org/W2047981249","https://openalex.org/W2050252843","https://openalex.org/W2053206835","https://openalex.org/W2064696798","https://openalex.org/W2068117118","https://openalex.org/W2073315776","https://openalex.org/W2080837614","https://openalex.org/W2088988536","https://openalex.org/W2097313070","https://openalex.org/W2097622325","https://openalex.org/W2102650396","https://openalex.org/W2103970959","https://openalex.org/W2109465247","https://openalex.org/W2130416410","https://openalex.org/W2130428276","https://openalex.org/W2140937522","https://openalex.org/W2143537721","https://openalex.org/W2146167160","https://openalex.org/W2147047601","https://openalex.org/W2155547021","https://openalex.org/W2157791928","https://openalex.org/W2199569612","https://openalex.org/W2328105863","https://openalex.org/W2471658570","https://openalex.org/W4212771095","https://openalex.org/W4247044192","https://openalex.org/W4285719527","https://openalex.org/W4299812672"],"related_works":["https://openalex.org/W2058082712","https://openalex.org/W2366851666","https://openalex.org/W3163944396","https://openalex.org/W3203595062","https://openalex.org/W2396971068","https://openalex.org/W2375386393","https://openalex.org/W2410100942","https://openalex.org/W2498228227","https://openalex.org/W2166203583","https://openalex.org/W1981829547"],"abstract_inverted_index":{"Clinical":[0],"management":[1],"of":[2,18,107,120,136,143,158,183],"individuals":[3,84,102],"found":[4],"to":[5,28,51,58,115,167,180],"harbor":[6],"a":[7,10,29,42,63,111,141,156],"mutation":[8],"at":[9,103,193],"known":[11,151],"disease-susceptibility":[12],"gene":[13],"depends":[14],"on":[15,83],"accurate":[16],"assessment":[17],"mutation-specific":[19],"disease":[20,76,118,152],"risk.":[21],"For":[22],"missense":[23],"mutations":[24,154],"(MMs)-mutations":[25],"that":[26,99],"lead":[27],"single":[30],"amino":[31,65],"acid":[32,66],"change":[33],"in":[34,126,199],"the":[35,39,53,59,86,117,127,164,194],"protein":[36,60],"coded":[37],"by":[38,91,96],"gene-this":[40],"poses":[41],"particularly":[43],"challenging":[44],"problem.":[45],"Because":[46],"it":[47],"is":[48,89],"not":[49,74],"possible":[50],"predict":[52],"structural":[54],"and":[55,68,95,155,170,188],"functional":[56,70],"changes":[57],"product":[61],"for":[62,150,172],"given":[64,122],"substitution,":[67],"because":[69],"assays":[71],"are":[72],"often":[73],"available,":[75],"association":[77,119],"must":[78],"be":[79],"inferred":[80],"from":[81,163],"data":[82,124,191],"with":[85],"mutation.":[87],"Inference":[88],"complicated":[90],"small":[92],"sample":[93],"sizes":[94],"sampling":[97],"mechanisms":[98],"bias":[100],"toward":[101],"high":[104],"familial":[105],"risk":[106],"disease.":[108],"We":[109,176],"propose":[110],"Bayesian":[112],"hierarchical":[113],"model":[114,179],"classify":[116],"MMs":[121,182],"pedigree":[123],"collected":[125,192],"high-risk":[128],"setting.":[129],"The":[130],"model's":[131],"structure":[132],"allows":[133],"simultaneous":[134],"characterization":[135],"multiple":[137],"MMs.":[138],"It":[139],"uses":[140],"group":[142,157],"pedigrees":[144],"identified":[145],"through":[146],"probands":[147],"tested":[148],"positive":[149],"associated":[153],"test-negative":[159],"pedigrees,":[160],"both":[161],"obtained":[162],"same":[165],"clinic,":[166],"calibrate":[168],"classification":[169],"control":[171],"potential":[173],"ascertainment":[174],"bias.":[175],"apply":[177],"this":[178],"study":[181],"breast-ovarian":[184],"susceptibility":[185],"genes":[186],"BRCA1":[187],"BRCA2,":[189],"using":[190],"Duke":[195],"University":[196],"Medical":[197],"Center":[198],"Durham,":[200],"North":[201],"Carolina.":[202]},"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":4},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-15T10:00:46.086208","created_date":"2025-10-10T00:00:00"}