{"id":"https://openalex.org/W1918068129","doi":"https://doi.org/10.1002/gepi.21649","title":"Detecting Association of Rare and Common Variants by Testing an Optimally Weighted Combination of Variants","display_name":"Detecting Association of Rare and Common Variants by Testing an Optimally Weighted Combination of Variants","publication_year":2012,"publication_date":"2012-06-19","ids":{"openalex":"https://openalex.org/W1918068129","doi":"https://doi.org/10.1002/gepi.21649","mag":"1918068129","pmid":"https://pubmed.ncbi.nlm.nih.gov/22714994"},"language":"en","primary_location":{"id":"doi:10.1002/gepi.21649","doi":"https://doi.org/10.1002/gepi.21649","is_oa":false,"landing_page_url":"https://doi.org/10.1002/gepi.21649","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","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/A5061115409","display_name":"Qiuying Sha","orcid":"https://orcid.org/0000-0002-9342-3269","observed_orcids":["https://orcid.org/0000-0002-9342-3269"]},"institutions":[{"id":"https://openalex.org/I11957088","display_name":"Michigan Technological University","ror":"https://ror.org/0036rpn28","country_code":"US","type":"education","lineage":["https://openalex.org/I11957088"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qiuying Sha","raw_affiliation_strings":["Department of Mathematical Sciences Michigan Technological University Houghton Michigan","Department of Mathematical Sciences, Michigan Technological University, Houghton, Michigan 49931, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mathematical Sciences Michigan Technological University Houghton Michigan","institution_ids":["https://openalex.org/I11957088"]},{"raw_affiliation_string":"Department of Mathematical Sciences, Michigan Technological University, Houghton, Michigan 49931, USA","institution_ids":["https://openalex.org/I11957088"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101511802","display_name":"Xuexia Wang","orcid":"https://orcid.org/0000-0002-0613-2608","observed_orcids":["https://orcid.org/0000-0002-0613-2608","https://orcid.org/0009-0009-2990-9430"]},"institutions":[{"id":"https://openalex.org/I11957088","display_name":"Michigan Technological University","ror":"https://ror.org/0036rpn28","country_code":"US","type":"education","lineage":["https://openalex.org/I11957088"]},{"id":"https://openalex.org/I43579087","display_name":"University of Wisconsin\u2013Milwaukee","ror":"https://ror.org/031q21x57","country_code":"US","type":"education","lineage":["https://openalex.org/I43579087"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xuexia Wang","raw_affiliation_strings":["School of Technology Michigan Technological University Houghton Michigan","Zilber School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, Wisconsin"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Technology Michigan Technological University Houghton Michigan","institution_ids":["https://openalex.org/I11957088"]},{"raw_affiliation_string":"Zilber School of Public Health, University of Wisconsin - Milwaukee, Milwaukee, Wisconsin","institution_ids":["https://openalex.org/I43579087"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Xinli Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I11957088","display_name":"Michigan Technological University","ror":"https://ror.org/0036rpn28","country_code":"US","type":"education","lineage":["https://openalex.org/I11957088"]},{"id":"https://openalex.org/I43579087","display_name":"University of Wisconsin\u2013Milwaukee","ror":"https://ror.org/031q21x57","country_code":"US","type":"education","lineage":["https://openalex.org/I43579087"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Xinli Wang","raw_affiliation_strings":["School of Technology, Michigan Technological University, Houghton, Michigan","Zilber School of Public Health University of Wisconsin\u2010Milwaukee Milwaukee Wisconsin"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Technology, Michigan Technological University, Houghton, Michigan","institution_ids":["https://openalex.org/I11957088"]},{"raw_affiliation_string":"Zilber School of Public Health University of Wisconsin\u2010Milwaukee Milwaukee Wisconsin","institution_ids":["https://openalex.org/I43579087"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5056056728","display_name":"Shuanglin Zhang","orcid":"https://orcid.org/0000-0002-9478-1199","observed_orcids":["https://orcid.org/0000-0002-9478-1199"]},"institutions":[{"id":"https://openalex.org/I11957088","display_name":"Michigan Technological University","ror":"https://ror.org/0036rpn28","country_code":"US","type":"education","lineage":["https://openalex.org/I11957088"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Shuanglin Zhang","raw_affiliation_strings":["Department of Mathematical Sciences, Michigan Technological University, Houghton, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mathematical Sciences, Michigan Technological University, Houghton, Michigan","institution_ids":["https://openalex.org/I11957088"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5056056728"],"corresponding_institution_ids":["https://openalex.org/I11957088"],"apc_list":{"value":4150,"currency":"USD","value_usd":4150},"apc_paid":null,"fwci":2.3972,"has_fulltext":false,"cited_by_count":71,"citation_normalized_percentile":{"value":0.89188189,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"36","issue":"6","first_page":"561","last_page":"571"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9922000169754028,"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":0.9922000169754028,"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":0.001500000013038516,"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":0.0010999999940395355,"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/rare-variant-association","display_name":"rare variant association","score":0.8500000238418579},{"id":"https://openalex.org/keywords/common-genetic-variants","display_name":"common genetic variants","score":0.7910000085830688},{"id":"https://openalex.org/keywords/optimal-weights","display_name":"optimal weighting","score":0.574999988079071},{"id":"https://openalex.org/keywords/complex-diseases","display_name":"complex diseases","score":0.6880000233650208},{"id":"https://openalex.org/keywords/population-stratification","display_name":"population stratification","score":0.734000027179718},{"id":"https://openalex.org/keywords/quantitative-and-qualitative-traits","display_name":"quantitative and qualitative traits","score":0.5910000205039978},{"id":"https://openalex.org/keywords/statistical-power","display_name":"statistical power","score":0.8040000200271606}],"concepts":[{"id":"https://openalex.org/C183115368","wikidata":"https://www.wikidata.org/wiki/Q856577","display_name":"Weighting","level":2,"score":0.7368066906929016},{"id":"https://openalex.org/C166976648","wikidata":"https://www.wikidata.org/wiki/Q7229824","display_name":"Population stratification","level":5,"score":0.644910454750061},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5169867277145386},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4993720054626465},{"id":"https://openalex.org/C2994538360","wikidata":"https://www.wikidata.org/wiki/Q774081","display_name":"Association test","level":5,"score":0.4878130257129669},{"id":"https://openalex.org/C119043178","wikidata":"https://www.wikidata.org/wiki/Q320723","display_name":"Covariate","level":2,"score":0.469192236661911},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.41898128390312195},{"id":"https://openalex.org/C183905921","wikidata":"https://www.wikidata.org/wiki/Q1038757","display_name":"Multiple comparisons problem","level":2,"score":0.4185049831867218},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41397958993911743},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.39163973927497864},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37953537702560425},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.3040931522846222},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.29312819242477417},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.21635136008262634},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.1601724922657013},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.13541150093078613},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0899151861667633},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","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":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018401","descriptor_name":"Sample Size","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030541","descriptor_name":"Databases, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/gepi.21649","doi":"https://doi.org/10.1002/gepi.21649","is_oa":false,"landing_page_url":"https://doi.org/10.1002/gepi.21649","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:22714994","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22714994","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:digitalcommons.mtu.edu:michigantech-p-22946","doi":null,"is_oa":false,"landing_page_url":"https://digitalcommons.mtu.edu/michigantech-p/3644","pdf_url":null,"source":{"id":"https://openalex.org/S4377196391","display_name":"Digital Commons - Michigan Tech (Michigan Technological University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I11957088","host_organization_name":"Michigan Technological University","host_organization_lineage":["https://openalex.org/I11957088"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Michigan Tech Publications, Part 1","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1084864892","display_name":"Statistical Methods for Family-Based Association Studies","funder_award_id":"R03HG006155","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G736005061","display_name":"Genetic Analysis of Common Diseases: An Evaluation","funder_award_id":"R01GM031575","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G8952902939","display_name":"QUANTITATIVE TRAIT LOCUS MAPPING IN HUMAN PEDIGREES","funder_award_id":"R01MH059490","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/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W1944558458","https://openalex.org/W1971102564","https://openalex.org/W1973878786","https://openalex.org/W1980991473","https://openalex.org/W1990102353","https://openalex.org/W2002212600","https://openalex.org/W2007733142","https://openalex.org/W2008047653","https://openalex.org/W2009729081","https://openalex.org/W2020040634","https://openalex.org/W2022927772","https://openalex.org/W2023073368","https://openalex.org/W2023353541","https://openalex.org/W2027266229","https://openalex.org/W2029387902","https://openalex.org/W2039785774","https://openalex.org/W2041467022","https://openalex.org/W2048755332","https://openalex.org/W2052992240","https://openalex.org/W2053725906","https://openalex.org/W2055514573","https://openalex.org/W2058148991","https://openalex.org/W2062983261","https://openalex.org/W2066874799","https://openalex.org/W2067993067","https://openalex.org/W2070984858","https://openalex.org/W2105046484","https://openalex.org/W2105103362","https://openalex.org/W2114444269","https://openalex.org/W2115837368","https://openalex.org/W2127184121","https://openalex.org/W2129559300","https://openalex.org/W2134070988","https://openalex.org/W2142979316","https://openalex.org/W2143992683","https://openalex.org/W2150806217","https://openalex.org/W2157752701","https://openalex.org/W2157929834","https://openalex.org/W2161935988","https://openalex.org/W2161998322","https://openalex.org/W2163953557","https://openalex.org/W2169322959","https://openalex.org/W2169632325","https://openalex.org/W2330813625","https://openalex.org/W2801490189"],"related_works":["https://openalex.org/W2973070265","https://openalex.org/W1604805795","https://openalex.org/W2949702871","https://openalex.org/W2913132620","https://openalex.org/W2014354305","https://openalex.org/W1646878952","https://openalex.org/W2081553457","https://openalex.org/W2949040738","https://openalex.org/W2050026402","https://openalex.org/W2587628185"],"abstract_inverted_index":{"Next-generation":[0],"sequencing":[1,6],"technology":[2],"will":[3,17],"soon":[4],"allow":[5],"the":[7,37,55,114,125,139,179],"whole":[8],"genome":[9],"of":[10,13,26,39,43,50,127,132,141,168,170,199,209],"large":[11,67],"groups":[12],"individuals,":[14],"and":[15,59,72,97,144,153,163,176,202],"thus":[16],"make":[18],"directly":[19],"testing":[20,36,124,197,207],"rare":[21,30,70,82,98,143,201,210],"variants":[22,44,71,83,133,204,211],"possible.":[23],"Currently,":[24],"most":[25],"existing":[27,193],"methods":[28,52,79],"for":[29,123,160,196,206],"variant":[31],"association":[32],"studies":[33,175],"are":[34,63,92],"essentially":[35],"effect":[38,126],"a":[40,109,119],"weighted":[41],"combination":[42,131],"with":[45],"different":[46],"weighting":[47],"schemes.":[48],"Performance":[49],"these":[51,78],"depends":[53],"on":[54,69,75,113],"weights":[56,62,68,74,107],"being":[57],"used":[58],"no":[60],"optimal":[61,106,115],"available.":[64],"By":[65],"putting":[66],"small":[73],"common":[76,96,145,203],"variants,":[77],"target":[80],"at":[81],"only,":[84],"although":[85],"increasing":[86],"evidence":[87],"shows":[88],"that":[89,187],"complex":[90],"diseases":[91],"caused":[93],"by":[94],"both":[95,142,151,200],"variants.":[99,146,172],"In":[100],"this":[101],"paper,":[102],"we":[103,117],"analytically":[104],"derive":[105],"under":[108],"certain":[110],"criterion.":[111],"Based":[112],"weights,":[116],"propose":[118],"Variable":[120],"Weight":[121],"Test":[122],"an":[128],"Optimally":[129],"Weighted":[130],"(VW-TOW).":[134],"VW-TOW":[135,147,188],"aims":[136],"to":[137,150,166,178],"test":[138],"effects":[140,169,198,208],"is":[148,164,189],"applicable":[149],"quantitative":[152],"qualitative":[154],"traits,":[155],"allows":[156],"covariates,":[157],"can":[158],"control":[159],"population":[161],"stratification,":[162],"robust":[165],"directions":[167],"causal":[171],"Extensive":[173],"simulation":[174],"application":[177],"Genetic":[180],"Analysis":[181],"Workshop":[182],"17":[183],"(GAW17)":[184],"data":[185],"show":[186],"more":[190],"powerful":[191],"than":[192],"ones":[194],"either":[195],"or":[205],"only.":[212]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":13},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":5}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
