{"id":"https://openalex.org/W2129245687","doi":"https://doi.org/10.1002/gepi.20050","title":"Analysis of single\u2010locus tests to detect gene/disease associations","display_name":"Analysis of single\u2010locus tests to detect gene/disease associations","publication_year":2005,"publication_date":"2005-01-06","ids":{"openalex":"https://openalex.org/W2129245687","doi":"https://doi.org/10.1002/gepi.20050","mag":"2129245687","pmid":"https://pubmed.ncbi.nlm.nih.gov/15637715"},"language":"en","primary_location":{"id":"doi:10.1002/gepi.20050","doi":"https://doi.org/10.1002/gepi.20050","is_oa":false,"landing_page_url":"https://doi.org/10.1002/gepi.20050","pdf_url":null,"source":{"id":"https://openalex.org/S136352176","display_name":"Genetic Epidemiology","issn_l":"0741-0395","issn":["0741-0395","1098-2272"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Epidemiology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"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/A5077476842","display_name":"Kathryn Roeder","orcid":"https://orcid.org/0000-0002-8869-6254","observed_orcids":["https://orcid.org/0000-0002-8869-6254"]},"institutions":[{"id":"https://openalex.org/I74973139","display_name":"Carnegie Mellon University","ror":"https://ror.org/05x2bcf33","country_code":"US","type":"education","lineage":["https://openalex.org/I74973139"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Kathryn Roeder","raw_affiliation_strings":["Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA. roeder@stat.cmu.edu","Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania, USA. roeder@stat.cmu.edu","institution_ids":["https://openalex.org/I74973139"]},{"raw_affiliation_string":"Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I74973139"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006085107","display_name":"Silviu\u2010Alin Bacanu","orcid":"https://orcid.org/0000-0002-4364-1583","observed_orcids":["https://orcid.org/0000-0002-4364-1583"]},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Silviu\u2010Alin Bacanu","raw_affiliation_strings":["Department of Psychiatry University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111988897","display_name":"Vibhor A. Sonpar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Vibhor Sonpar","raw_affiliation_strings":["Department of Psychiatry University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013542379","display_name":"Xiaohua Douglas Zhang","orcid":"https://orcid.org/0000-0002-2486-7931","observed_orcids":["https://orcid.org/0000-0002-2486-7931"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Xiaohua Zhang","raw_affiliation_strings":["Department of Biometrics Research Merck Research Laboratories West Point, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biometrics Research Merck Research Laboratories West Point, Pennsylvania","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021301519","display_name":"Bernie Devlin","orcid":"https://orcid.org/0000-0003-2524-4290","observed_orcids":["https://orcid.org/0000-0003-2524-4290"]},"institutions":[{"id":"https://openalex.org/I170201317","display_name":"University of Pittsburgh","ror":"https://ror.org/01an3r305","country_code":"US","type":"education","lineage":["https://openalex.org/I170201317"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"B. Devlin","raw_affiliation_strings":["Department of Psychiatry University of Pittsburgh, Pittsburgh, Pennsylvania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Psychiatry University of Pittsburgh, Pittsburgh, Pennsylvania","institution_ids":["https://openalex.org/I170201317"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5077476842"],"corresponding_institution_ids":["https://openalex.org/I74973139"],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":null,"fwci":7.0644,"has_fulltext":false,"cited_by_count":97,"citation_normalized_percentile":{"value":0.98107842,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"28","issue":"3","first_page":"207","last_page":"219"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9980000257492065,"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":0.9980000257492065,"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/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.0008999999845400453,"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/T10751","display_name":"Forensic and Genetic Research","score":0.0003000000142492354,"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/tag-snps","display_name":"tag SNPs","score":0.7770000100135803},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.9390000104904175},{"id":"https://openalex.org/keywords/hotelling-s-t2-test","display_name":"Hotelling's T2 test","score":0.8510000109672546},{"id":"https://openalex.org/keywords/permutation-tests","display_name":"permutation tests","score":0.4970000088214874},{"id":"https://openalex.org/keywords/bonferroni-correction","display_name":"Bonferroni correction","score":0.9409999847412109},{"id":"https://openalex.org/keywords/multiple-testing-correction","display_name":"multiple testing correction","score":0.6589999794960022},{"id":"https://openalex.org/keywords/statistical-power","display_name":"statistical power","score":0.6169999837875366},{"id":"https://openalex.org/keywords/complex-diseases","display_name":"complex diseases","score":0.4779999852180481},{"id":"https://openalex.org/keywords/candidate-gene-studies","display_name":"candidate gene association","score":0.460999995470047},{"id":"https://openalex.org/keywords/snp-selection","display_name":"SNP selection","score":0.5540000200271606}],"concepts":[{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.7475326061248779},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.732933759689331},{"id":"https://openalex.org/C127808970","wikidata":"https://www.wikidata.org/wiki/Q385989","display_name":"Bonferroni correction","level":2,"score":0.7036592364311218},{"id":"https://openalex.org/C183905921","wikidata":"https://www.wikidata.org/wiki/Q1038757","display_name":"Multiple comparisons problem","level":2,"score":0.5652947425842285},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.5018751621246338},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.49666982889175415},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48999014496803284},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4770694971084595},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.466505229473114},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.4348348379135132},{"id":"https://openalex.org/C87007009","wikidata":"https://www.wikidata.org/wiki/Q210832","display_name":"Statistical hypothesis testing","level":2,"score":0.4260708689689636},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4210744798183441},{"id":"https://openalex.org/C2994538360","wikidata":"https://www.wikidata.org/wiki/Q774081","display_name":"Association test","level":5,"score":0.4196591079235077},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2455410659313202},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.22929733991622925},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.20693567395210266}],"mesh":[{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012044","descriptor_name":"Regression Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"doi:10.1002/gepi.20050","doi":"https://doi.org/10.1002/gepi.20050","is_oa":false,"landing_page_url":"https://doi.org/10.1002/gepi.20050","pdf_url":null,"source":{"id":"https://openalex.org/S136352176","display_name":"Genetic Epidemiology","issn_l":"0741-0395","issn":["0741-0395","1098-2272"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Epidemiology","raw_type":"journal-article"},{"id":"pmid:15637715","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15637715","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":"Genetic epidemiology","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.135.2702","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.135.2702","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.stat.cmu.edu/~roeder/genepi_test.pdf","raw_type":"text"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.295.6560","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.295.6560","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://www.stat.cmu.edu/~roeder/publications/rbszd2005.pdf","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6510936924","display_name":"Genetic association in schizophrenia and other disorders","funder_award_id":"R01MH057881","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G7250221764","display_name":null,"funder_award_id":"DA011922","funder_id":"https://openalex.org/F4320337347","funder_display_name":"National Institute on Drug Abuse"},{"id":"https://openalex.org/G7308823084","display_name":"SUBSTANCE ABUSE AND THE DOPAMINE SYSTEM GENES","funder_award_id":"5r01da011922-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G7816143599","display_name":null,"funder_award_id":"MH057881","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337347","display_name":"National Institute on Drug Abuse","ror":"https://ror.org/00fq5cm18"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1508985588","https://openalex.org/W1971771243","https://openalex.org/W1974631994","https://openalex.org/W1978136801","https://openalex.org/W1997759222","https://openalex.org/W2015408724","https://openalex.org/W2019854250","https://openalex.org/W2022005040","https://openalex.org/W2024938068","https://openalex.org/W2025306791","https://openalex.org/W2049341757","https://openalex.org/W2058401000","https://openalex.org/W2072680636","https://openalex.org/W2097148973","https://openalex.org/W2097574142","https://openalex.org/W2108237262","https://openalex.org/W2109342343","https://openalex.org/W2111534865","https://openalex.org/W2116708238","https://openalex.org/W2120068628","https://openalex.org/W2134599124","https://openalex.org/W2134814710","https://openalex.org/W2135732313","https://openalex.org/W2138221062","https://openalex.org/W2146945563","https://openalex.org/W2148559943","https://openalex.org/W2149796867","https://openalex.org/W2152664025","https://openalex.org/W2156341632","https://openalex.org/W2159372288"],"related_works":["https://openalex.org/W7096108582","https://openalex.org/W2094844891","https://openalex.org/W2032224504","https://openalex.org/W2127093058","https://openalex.org/W2094863589","https://openalex.org/W2057728920","https://openalex.org/W2012642411","https://openalex.org/W7037501751","https://openalex.org/W1816932740","https://openalex.org/W2015408724"],"abstract_inverted_index":{"A":[0],"goal":[1],"of":[2,43,71,86,98,137,140,155,165,173,174,202,207,222,229,235,248,255,291,302,326,335],"association":[3,75,82,93],"analysis":[4],"is":[5,17,36,61,76,304,330],"to":[6,21,39,66,79,170,211,293,307],"determine":[7],"whether":[8],"variation":[9],"in":[10,47,56],"a":[11,41,69,138,159,166,225,252,259,278,288,317,323],"particular":[12],"candidate":[13],"region":[14],"or":[15,152],"gene":[16,260,329],"associated":[18],"with":[19,52,269],"liability":[20,210,237,271],"complex":[22],"disease.":[23,212],"To":[24],"evaluate":[25],"such":[26,68],"candidates,":[27],"ubiquitous":[28],"Single":[29],"Nucleotide":[30],"Polymorphisms":[31],"(SNPs)":[32],"are":[33,46,105,189,261,266,339],"useful.":[34],"It":[35],"critical,":[37],"however,":[38],"select":[40],"set":[42,70],"SNPs":[44,101,223,249,257,265,292,298,327],"that":[45,161,195,215,282,308,321],"substantial":[48,289],"linkage":[49],"disequilibrium":[50],"(LD)":[51],"all":[53],"other":[54,311],"polymorphisms":[55],"the":[57,99,123,135,148,163,171,179,219,227,233,236,246,256,270,310,332],"region.":[58],"Whether":[59],"there":[60],"an":[62],"ideal":[63],"statistical":[64],"framework":[65],"test":[67,141,175],"'tag":[72],"SNPs'":[73],"for":[74,81,92,144,309],"unknown.":[77],"Compared":[78],"tests":[80,91,116,162],"based":[83,94],"on":[84,95,218],"frequencies":[85],"haplotypes,":[87],"recent":[88],"evidence":[89],"suggests":[90],"linear":[96],"combinations":[97],"tag":[100,230],"(Hotelling":[102],"T(2)":[103,181],"test)":[104],"more":[106,120],"powerful.":[107],"Following":[108],"this":[109,128],"logical":[110],"progression,":[111],"we":[112,184],"wondered":[113],"if":[114],"single-locus":[115],"would":[117],"prove":[118],"generally":[119,305],"powerful":[121],"than":[122],"regression-based":[124],"tests?":[125],"We":[126,213],"answer":[127],"question":[129],"by":[130,147,153,191],"investigating":[131],"four":[132],"inferential":[133],"procedures:":[134],"maximum":[136,164],"series":[139,172],"statistics":[142],"corrected":[143],"multiple":[145,264],"testing":[146],"Bonferroni":[149],"procedure,":[150,182],"T(B),":[151],"permutation":[154],"case-control":[156],"status,":[157],"T(P);":[158],"procedure":[160,320],"smoothed":[167],"curve":[168],"fitted":[169],"statistics,":[176],"T(S);":[177],"and":[178,204,232,245,263,337],"Hotelling":[180],"which":[183],"call":[185],"T(R).":[186,314],"These":[187],"procedures":[188],"evaluated":[190],"simulating":[192],"data":[193],"like":[194],"from":[196],"human":[197],"populations,":[198],"including":[199,313],"realistic":[200,205],"levels":[201],"LD":[203],"effects":[206],"alleles":[208],"conferring":[209],"find":[214],"power":[216,244,284,301],"depends":[217],"correlation":[220],"structure":[221],"within":[224,258],"gene,":[226],"density":[228],"SNPs,":[231],"placement":[234],"allele.":[238],"The":[239],"clearest":[240],"pattern":[241],"emerges":[242],"between":[243],"number":[247,290,325],"selected.":[250],"When":[251],"large":[253],"fraction":[254],"tested,":[262],"highly":[267],"correlated":[268],"allele,":[272],"T(S)":[273],"has":[274],"better":[275],"power.":[276],"Using":[277],"SNP":[279,318],"selection":[280,319],"scheme":[281],"optimizes":[283],"but":[285],"also":[286],"requires":[287],"be":[294],"genotyped":[295],"(roughly":[296],"10-20":[297],"per":[299,328],"gene),":[300],"T(P)":[303,336],"superior":[306],"procedures,":[312],"Finally,":[315],"when":[316],"targets":[322],"minimal":[324],"applied,":[331],"average":[333],"performances":[334],"T(R)":[338],"indistinguishable.":[340]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}