{"id":"https://openalex.org/W2586468556","doi":null,"title":"Methods to Classify BRCA1 Variants of Uncertain Clinical Significance","display_name":"Methods to Classify BRCA1 Variants of Uncertain Clinical Significance","publication_year":2004,"publication_date":"2004-01-01","ids":{"openalex":"https://openalex.org/W2586468556","mag":"2586468556"},"language":"en","primary_location":{"id":"mag:2586468556","doi":null,"is_oa":false,"landing_page_url":"https://www.researchgate.net/profile/Alvaro_Monteiro/publication/8587696_Methods_to_classify_BRCA1_variants_of_uncertain_clinical_significance_the_more_the_merrier/links/54eb42140cf2082851bd68e8.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069902711","display_name":"\u00c1lvaro N.A. Monteiro","orcid":"https://orcid.org/0000-0002-8448-4801","observed_orcids":["https://orcid.org/0000-0002-8448-4801"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"\u00c1lvaro N.A. Monteiro","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-8448-4801","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070842289","display_name":"H. Lee","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Lee","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058703772","display_name":"Robert S. Coyne","orcid":"https://orcid.org/0000-0002-7693-3996","observed_orcids":["https://orcid.org/0000-0002-7693-3996"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Robert S. Coyne","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-7693-3996","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017178711","display_name":"Heather B. McDonald","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Heather B. McDonald","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5088033476","display_name":"Lawrence C. Brody","orcid":"https://orcid.org/0000-0001-9435-3592","observed_orcids":["https://orcid.org/0000-0001-9435-3592"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lawrence C. Brody","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9435-3592","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10769","display_name":"BRCA gene mutations in cancer","score":0.9970999956130981,"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":0.9970999956130981,"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":0.0020000000949949026,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/brca1","display_name":"BRCA1","score":0.996999979019165},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.9789999723434448},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.800000011920929},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.8550000190734863},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.6460000276565552},{"id":"https://openalex.org/keywords/pathogenicity-prediction","display_name":"pathogenicity prediction","score":0.5830000042915344}],"concepts":[{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.44336551427841187},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.42966750264167786}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2586468556","doi":null,"is_oa":false,"landing_page_url":"https://www.researchgate.net/profile/Alvaro_Monteiro/publication/8587696_Methods_to_classify_BRCA1_variants_of_uncertain_clinical_significance_the_more_the_merrier/links/54eb42140cf2082851bd68e8.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1611268078","https://openalex.org/W1934253652","https://openalex.org/W1976960697","https://openalex.org/W1977035912","https://openalex.org/W1979256255","https://openalex.org/W1996635873","https://openalex.org/W1999002383","https://openalex.org/W2011275324","https://openalex.org/W2019309185","https://openalex.org/W2022176772","https://openalex.org/W2029884468","https://openalex.org/W2031220507","https://openalex.org/W2036367876","https://openalex.org/W2044713924","https://openalex.org/W2053003311","https://openalex.org/W2056589762","https://openalex.org/W2056604321","https://openalex.org/W2058981542","https://openalex.org/W2059365987","https://openalex.org/W2074844264","https://openalex.org/W2081027578","https://openalex.org/W2084491471","https://openalex.org/W2088179903","https://openalex.org/W2109465247","https://openalex.org/W2128168784","https://openalex.org/W2129169382","https://openalex.org/W2141069009","https://openalex.org/W2144483035","https://openalex.org/W2155547021","https://openalex.org/W2170278099"],"related_works":["https://openalex.org/W2563760368","https://openalex.org/W2931073035","https://openalex.org/W7100611898","https://openalex.org/W2000018187","https://openalex.org/W2607488149","https://openalex.org/W7096033955","https://openalex.org/W2011094690","https://openalex.org/W7052522302","https://openalex.org/W171078367","https://openalex.org/W7100014614"],"abstract_inverted_index":null,"counts_by_year":[{"year":2013,"cited_by_count":1}],"updated_date":"2025-11-06T04:12:42.849631","created_date":"2017-02-17T00:00:00"}
