{"id":"https://openalex.org/W1998466008","doi":"https://doi.org/10.1038/nrg2867-c1","title":"Tests of association for rare variants: case control mutation screening","display_name":"Tests of association for rare variants: case control mutation screening","publication_year":2011,"publication_date":"2011-02-01","ids":{"openalex":"https://openalex.org/W1998466008","doi":"https://doi.org/10.1038/nrg2867-c1","mag":"1998466008","pmid":"https://pubmed.ncbi.nlm.nih.gov/21283087"},"language":"en","primary_location":{"id":"doi:10.1038/nrg2867-c1","doi":"https://doi.org/10.1038/nrg2867-c1","is_oa":false,"landing_page_url":"https://doi.org/10.1038/nrg2867-c1","pdf_url":null,"source":{"id":"https://openalex.org/S8553189","display_name":"Nature Reviews Genetics","issn_l":"1471-0056","issn":["1471-0056","1471-0064"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-2","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Reviews Genetics","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/3889473","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5057093670","display_name":"Sean V. Tavtigian","orcid":"https://orcid.org/0000-0002-7543-8221","observed_orcids":["https://orcid.org/0000-0002-7543-8221"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Sean V. Tavtigian","raw_affiliation_strings":["Sean V. Tavtigian, Mia Hashibe and Alun Thomas are at the University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sean V. Tavtigian, Mia Hashibe and Alun Thomas are at the University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.,","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048328069","display_name":"Mia Hashibe","orcid":"https://orcid.org/0000-0002-6903-2049","observed_orcids":["https://orcid.org/0000-0002-6903-2049"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mia Hashibe","raw_affiliation_strings":["Sean V. Tavtigian, Mia Hashibe and Alun Thomas are at the University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sean V. Tavtigian, Mia Hashibe and Alun Thomas are at the University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.,","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5070286540","display_name":"Alun Thomas","orcid":"https://orcid.org/0000-0001-5650-7044","observed_orcids":["https://orcid.org/0000-0001-5650-7044"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alun Thomas","raw_affiliation_strings":["Sean V. Tavtigian, Mia Hashibe and Alun Thomas are at the University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sean V. Tavtigian, Mia Hashibe and Alun Thomas are at the University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.,","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5057093670"],"corresponding_institution_ids":["https://openalex.org/I223532165"],"apc_list":null,"apc_paid":null,"fwci":1.0991,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.76702588,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"12","issue":"3","first_page":"224","last_page":"224"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9657999873161316,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9657999873161316,"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":0.020600000396370888,"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":0.003700000001117587,"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/rare-variants","display_name":"rare variants","score":0.8339999914169312},{"id":"https://openalex.org/keywords/association-tests","display_name":"association testing","score":0.4779999852180481},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.6589999794960022},{"id":"https://openalex.org/keywords/cancer-genetics","display_name":"cancer genetics","score":0.8970000147819519}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7048017978668213},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6794188618659973},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.6539135575294495},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6327177286148071},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.5530288815498352},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.5144715309143066},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.48779040575027466},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.45518937706947327},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4232243001461029},{"id":"https://openalex.org/C555299818","wikidata":"https://www.wikidata.org/wiki/Q15709513","display_name":"Statistical genetics","level":5,"score":0.42218494415283203},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.4118741750717163},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.27059638500213623},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.2516493499279022},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2209126055240631},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.20174932479858398}],"mesh":[{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001943","descriptor_name":"Breast Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019398","descriptor_name":"Genes, BRCA1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019398","descriptor_name":"Genes, BRCA1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019398","descriptor_name":"Genes, BRCA1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024522","descriptor_name":"Genes, BRCA2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024522","descriptor_name":"Genes, BRCA2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D024522","descriptor_name":"Genes, BRCA2","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056426","descriptor_name":"Genetic Loci","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1038/nrg2867-c1","doi":"https://doi.org/10.1038/nrg2867-c1","is_oa":false,"landing_page_url":"https://doi.org/10.1038/nrg2867-c1","pdf_url":null,"source":{"id":"https://openalex.org/S8553189","display_name":"Nature Reviews Genetics","issn_l":"1471-0056","issn":["1471-0056","1471-0064"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-2","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature Reviews Genetics","raw_type":"journal-article"},{"id":"pmid:21283087","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21283087","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":"Nature reviews. Genetics","raw_type":"Comment"},{"id":"pmh:oai:europepmc.org:2875716","doi":null,"is_oa":false,"landing_page_url":"http://europepmc.org/articles/PMC3889473","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3889473","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3889473","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":"Nat Rev Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3889473","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3889473","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":"Nat Rev Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.8999999761581421,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"score":0.6700000166893005,"display_name":"Life on land","id":"https://metadata.un.org/sdg/15"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G174519574","display_name":null,"funder_award_id":"R01-CA121245","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000027870","display_name":null,"funder_award_id":"R01CA121245","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W1977923363","https://openalex.org/W1984379214","https://openalex.org/W2007733142","https://openalex.org/W2035854310","https://openalex.org/W2050085804","https://openalex.org/W2053720129","https://openalex.org/W2066751658","https://openalex.org/W2070984858","https://openalex.org/W2114993860","https://openalex.org/W2119931482","https://openalex.org/W2135951815","https://openalex.org/W2153391504"],"related_works":["https://openalex.org/W2066467839","https://openalex.org/W2594299395","https://openalex.org/W2111842731","https://openalex.org/W2170506381","https://openalex.org/W2765794416","https://openalex.org/W2039666944","https://openalex.org/W1531630856","https://openalex.org/W2794350630","https://openalex.org/W2089097350","https://openalex.org/W1864400744"],"abstract_inverted_index":null,"counts_by_year":[{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-09-21T07:43:02.447757","created_date":"2025-10-10T00:00:00"}
