{"id":"https://openalex.org/W2931073035","doi":null,"title":"Novel Approaches to Studying BRCA Variants of Unknown Clinical Significance","display_name":"Novel Approaches to Studying BRCA Variants of Unknown Clinical Significance","publication_year":2014,"publication_date":"2014-08-12","ids":{"openalex":"https://openalex.org/W2931073035","mag":"2931073035"},"language":"en","primary_location":{"id":"mag:2931073035","doi":null,"is_oa":false,"landing_page_url":"https://jscholarship.library.jhu.edu/handle/1774.2/60310","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":"dissertation","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/A5014604899","display_name":"Rory L. Cochran","orcid":"https://orcid.org/0000-0001-9123-4010","observed_orcids":["https://orcid.org/0000-0001-9123-4010"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Rory L. Cochran","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9123-4010","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5014604899"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"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":0.9994999766349792,"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":0.9994999766349792,"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":0.00019999999494757503,"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":0.8690000176429749},{"id":"https://openalex.org/keywords/brca2","display_name":"BRCA2","score":1.0},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.972000002861023},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.671999990940094},{"id":"https://openalex.org/keywords/hereditary-breast-and-ovarian-cancer-syndrome","display_name":"hereditary breast and ovarian cancer","score":0.8700000047683716},{"id":"https://openalex.org/keywords/variant-interpretation","display_name":"variant interpretation","score":0.4129999876022339},{"id":"https://openalex.org/keywords/cancer-susceptibility-genes","display_name":"cancer susceptibility genes","score":0.33399999141693115}],"concepts":[{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5283682346343994},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.42615342140197754},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3855676054954529},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.35283392667770386},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34629514813423157},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.18989312648773193}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2931073035","doi":null,"is_oa":false,"landing_page_url":"https://jscholarship.library.jhu.edu/handle/1774.2/60310","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","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":106,"referenced_works":["https://openalex.org/W121553317","https://openalex.org/W1544307618","https://openalex.org/W1544851750","https://openalex.org/W1558788767","https://openalex.org/W1559170038","https://openalex.org/W1755597336","https://openalex.org/W1768635289","https://openalex.org/W1886453591","https://openalex.org/W1896854564","https://openalex.org/W1972152765","https://openalex.org/W1972710550","https://openalex.org/W1973268287","https://openalex.org/W1980450624","https://openalex.org/W1982041410","https://openalex.org/W1987605482","https://openalex.org/W1989119894","https://openalex.org/W1989996784","https://openalex.org/W1990623178","https://openalex.org/W1992491142","https://openalex.org/W1999002383","https://openalex.org/W2000636252","https://openalex.org/W2001762032","https://openalex.org/W2009007206","https://openalex.org/W2009454156","https://openalex.org/W2011658104","https://openalex.org/W2011798397","https://openalex.org/W2015631955","https://openalex.org/W2016042605","https://openalex.org/W2017714068","https://openalex.org/W2018510608","https://openalex.org/W2019089605","https://openalex.org/W2022937116","https://openalex.org/W2027605814","https://openalex.org/W2028503632","https://openalex.org/W2032298890","https://openalex.org/W2036245489","https://openalex.org/W2036546668","https://openalex.org/W2037117416","https://openalex.org/W2037191150","https://openalex.org/W2038260399","https://openalex.org/W2038275315","https://openalex.org/W2041248556","https://openalex.org/W2044668270","https://openalex.org/W2045644843","https://openalex.org/W2047119008","https://openalex.org/W2047460928","https://openalex.org/W2048619264","https://openalex.org/W2049598883","https://openalex.org/W2050252843","https://openalex.org/W2050758071","https://openalex.org/W2054139127","https://openalex.org/W2054605948","https://openalex.org/W2057496292","https://openalex.org/W2060142575","https://openalex.org/W2060913542","https://openalex.org/W2064543601","https://openalex.org/W2065042932","https://openalex.org/W2065777930","https://openalex.org/W2068176376","https://openalex.org/W2068638854","https://openalex.org/W2071411482","https://openalex.org/W2074846736","https://openalex.org/W2076746363","https://openalex.org/W2077858999","https://openalex.org/W2081380192","https://openalex.org/W2082411289","https://openalex.org/W2086840280","https://openalex.org/W2088179903","https://openalex.org/W2090740451","https://openalex.org/W2091350790","https://openalex.org/W2091961739","https://openalex.org/W2093155634","https://openalex.org/W2096813217","https://openalex.org/W2098503539","https://openalex.org/W2100867624","https://openalex.org/W2101161126","https://openalex.org/W2101699473","https://openalex.org/W2102209369","https://openalex.org/W2103441770","https://openalex.org/W2103970959","https://openalex.org/W2105644651","https://openalex.org/W2111429259","https://openalex.org/W2119180969","https://openalex.org/W2120641928","https://openalex.org/W2122176151","https://openalex.org/W2126491552","https://openalex.org/W2128761168","https://openalex.org/W2129346048","https://openalex.org/W2134536765","https://openalex.org/W2138733479","https://openalex.org/W2139515538","https://openalex.org/W2140036600","https://openalex.org/W2145518899","https://openalex.org/W2145745448","https://openalex.org/W2147058464","https://openalex.org/W2147071985","https://openalex.org/W2147415481","https://openalex.org/W2150111967","https://openalex.org/W2153579158","https://openalex.org/W2156001194","https://openalex.org/W2157727387","https://openalex.org/W2162956417","https://openalex.org/W2165340471","https://openalex.org/W2170856921","https://openalex.org/W2171972386","https://openalex.org/W2432429035"],"related_works":["https://openalex.org/W7100611898","https://openalex.org/W2586468556","https://openalex.org/W2150549368","https://openalex.org/W2563760368","https://openalex.org/W7052522302","https://openalex.org/W2943974872","https://openalex.org/W2011094690","https://openalex.org/W7067753693","https://openalex.org/W4251848946","https://openalex.org/W7008183995"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2019-04-11T00:00:00"}