{"id":"https://openalex.org/W4390139725","doi":"https://doi.org/10.48085/gfa4e8812","title":"Fallacies and Pitfalls in Genome-Wide Association Studies","display_name":"Fallacies and Pitfalls in Genome-Wide Association Studies","publication_year":2023,"publication_date":"2023-12-23","ids":{"openalex":"https://openalex.org/W4390139725","doi":"https://doi.org/10.48085/gfa4e8812"},"language":"en","primary_location":{"id":"doi:10.48085/gfa4e8812","doi":"https://doi.org/10.48085/gfa4e8812","is_oa":true,"landing_page_url":"https://doi.org/10.48085/gfa4e8812","pdf_url":"https://brainiacsjournal.org/arc/pub/Hecker2023FPGWAS/ViewPdf","source":{"id":"https://openalex.org/S4210215748","display_name":"Brainiacs Journal of Brain Imaging And Computing Sciences","issn_l":"2766-6883","issn":["2766-6883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brainiacs Journal of Brain Imaging And Computing Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://brainiacsjournal.org/arc/pub/Hecker2023FPGWAS/ViewPdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080474017","display_name":"Julian Hecker","orcid":"https://orcid.org/0000-0001-7918-089X","observed_orcids":["https://orcid.org/0000-0001-7918-089X"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julian Hecker","raw_affiliation_strings":["Harvard University; AH and JN with Washington University"],"raw_orcid":"https://orcid.org/0000-0001-7918-089X","affiliations":[{"raw_affiliation_string":"Harvard University; AH and JN with Washington University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033382524","display_name":"Adam Craig","orcid":"https://orcid.org/0000-0002-7646-4384","observed_orcids":["https://orcid.org/0000-0002-7646-4384"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Adam Craig","raw_affiliation_strings":["Harvard University; AH and JN with Washington University"],"raw_orcid":"https://orcid.org/0000-0002-7646-4384","affiliations":[{"raw_affiliation_string":"Harvard University; AH and JN with Washington University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Andrew Hughes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew Hughes","raw_affiliation_strings":["Harvard University; AH and JN with Washington University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harvard University; AH and JN with Washington University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019174544","display_name":"Julie Neidich","orcid":"https://orcid.org/0000-0003-0962-1957","observed_orcids":["https://orcid.org/0000-0003-0962-1957"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie Neidich","raw_affiliation_strings":["Harvard University; AH and JN with Washington University"],"raw_orcid":"https://orcid.org/0000-0003-0962-1957","affiliations":[{"raw_affiliation_string":"Harvard University; AH and JN with Washington University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022963362","display_name":"Carl Taswell","orcid":"https://orcid.org/0000-0002-9386-4574","observed_orcids":["https://orcid.org/0000-0002-9386-4574"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carl Taswell","raw_affiliation_strings":["Harvard University; AH and JN with Washington University"],"raw_orcid":"https://orcid.org/0000-0002-9386-4574","affiliations":[{"raw_affiliation_string":"Harvard University; AH and JN with Washington University","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5107379548","display_name":"Nan M. Laird","orcid":"https://orcid.org/0000-0003-2066-3234","observed_orcids":["https://orcid.org/0000-0003-2066-3234"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Nan Laird","raw_affiliation_strings":["Harvard University; AH and JN with Washington University"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Harvard University; AH and JN with Washington University","institution_ids":["https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I136199984"],"apc_list":null,"apc_paid":null,"fwci":0.3179,"has_fulltext":true,"cited_by_count":2,"citation_normalized_percentile":{"value":0.56292455,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"4","issue":"2","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","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/T10261","display_name":"Genetic Associations and Epidemiology","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/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/T10887","display_name":"Bioinformatics and Genomic Networks","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/genome-wide-association-study","display_name":"genome-wide association study","score":0.9909999966621399},{"id":"https://openalex.org/keywords/statistical-inference","display_name":"statistical inference","score":0.42399999499320984},{"id":"https://openalex.org/keywords/data-quality","display_name":"data quality","score":0.7889999747276306}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5536497831344604},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.4848962426185608},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4839213490486145},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37476032972335815},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26095497608184814},{"id":"https://openalex.org/C111472728","wikidata":"https://www.wikidata.org/wiki/Q9471","display_name":"Epistemology","level":1,"score":0.16054397821426392},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.15330326557159424},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.116299569606781},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.08267560601234436},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0731365978717804}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.48085/gfa4e8812","doi":"https://doi.org/10.48085/gfa4e8812","is_oa":true,"landing_page_url":"https://doi.org/10.48085/gfa4e8812","pdf_url":"https://brainiacsjournal.org/arc/pub/Hecker2023FPGWAS/ViewPdf","source":{"id":"https://openalex.org/S4210215748","display_name":"Brainiacs Journal of Brain Imaging And Computing Sciences","issn_l":"2766-6883","issn":["2766-6883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brainiacs Journal of Brain Imaging And Computing Sciences","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.48085/gfa4e8812","doi":"https://doi.org/10.48085/gfa4e8812","is_oa":true,"landing_page_url":"https://doi.org/10.48085/gfa4e8812","pdf_url":"https://brainiacsjournal.org/arc/pub/Hecker2023FPGWAS/ViewPdf","source":{"id":"https://openalex.org/S4210215748","display_name":"Brainiacs Journal of Brain Imaging And Computing Sciences","issn_l":"2766-6883","issn":["2766-6883"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Brainiacs Journal of Brain Imaging And Computing Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8999999761581421,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4390139725.pdf","grobid_xml":"https://content.openalex.org/works/W4390139725.grobid-xml"},"referenced_works_count":53,"referenced_works":["https://openalex.org/W1560012080","https://openalex.org/W1968776100","https://openalex.org/W1972929463","https://openalex.org/W1979521102","https://openalex.org/W1979637071","https://openalex.org/W2042124148","https://openalex.org/W2052071194","https://openalex.org/W2066497150","https://openalex.org/W2091239497","https://openalex.org/W2103336510","https://openalex.org/W2118822739","https://openalex.org/W2148732309","https://openalex.org/W2156714600","https://openalex.org/W2157752701","https://openalex.org/W2161701454","https://openalex.org/W2170893332","https://openalex.org/W2171709999","https://openalex.org/W2409729650","https://openalex.org/W2528138662","https://openalex.org/W2580385129","https://openalex.org/W2725988230","https://openalex.org/W2771123358","https://openalex.org/W2777667999","https://openalex.org/W2801470635","https://openalex.org/W2806225217","https://openalex.org/W2889800760","https://openalex.org/W2895486342","https://openalex.org/W2924426490","https://openalex.org/W2944540884","https://openalex.org/W2949181937","https://openalex.org/W2971005880","https://openalex.org/W3045910546","https://openalex.org/W3111061871","https://openalex.org/W3119755789","https://openalex.org/W3199622685","https://openalex.org/W3215846309","https://openalex.org/W4220711675","https://openalex.org/W4226286160","https://openalex.org/W4235230959","https://openalex.org/W4282915079","https://openalex.org/W4296691011","https://openalex.org/W4304607655","https://openalex.org/W4304698823","https://openalex.org/W4308616307","https://openalex.org/W4309620746","https://openalex.org/W4315644439","https://openalex.org/W4317934540","https://openalex.org/W4360614352","https://openalex.org/W4364377404","https://openalex.org/W4379261154","https://openalex.org/W4384198172","https://openalex.org/W4386825733","https://openalex.org/W6939935060"],"related_works":["https://openalex.org/W7097901875","https://openalex.org/W2944540884","https://openalex.org/W2082536587","https://openalex.org/W4301395573","https://openalex.org/W2125419286","https://openalex.org/W2408213762","https://openalex.org/W7096895813","https://openalex.org/W7099124148","https://openalex.org/W1847429134","https://openalex.org/W7100955642"],"abstract_inverted_index":{"Since":[0],"the":[1,28,50,60,72,93,99,110,117,156,160,176,183,214,236,240],"first":[2,232],"genome-wide":[3,219],"association":[4],"study":[5],"(GWAS)":[6],"identifying":[7],"variants":[8,70],"associated":[9,84,223],"with":[10,71,175,205,224,254],"myocardial":[11],"infarction":[12],"was":[13],"published":[14],"over":[15],"20":[16],"years":[17],"ago,":[18],"GWASs":[19,56,217],"have":[20,42,106],"emerged":[21],"as":[22,170,172],"a":[23,231],"powerful":[24],"tool":[25],"for":[26,154,173,259],"exploring":[27],"genetic":[29,184],"basis":[30,185],"of":[31,36,38,47,55,79,95,102,112,119,182,186,202,221,244],"complex":[32],"traits.To":[33],"date,":[34],"hundreds":[35],"thousands":[37,46],"statistically":[39],"significant":[40],"associations":[41,75],"been":[43,107],"reported":[44],"across":[45],"human":[48],"phenotypes.Nevertheless,":[49],"design,":[51],"implementation,":[52],"and":[53,59,90,149,192,200,210,256],"analysis":[54],"remain":[57],"complex,":[58],"results":[61,111,204],"are":[62,76],"easily":[63],"misinterpreted.Common":[64],"mistakes":[65],"include":[66],"1)":[67],"assuming":[68],"that":[69,83,114],"strongest":[73],"statistical":[74,150,196,262],"causal":[77],"instead":[78],"correlative,":[80],"2)":[81],"believing":[82],"loci":[85,97,222],"act":[86],"through":[87],"nearby":[88],"genes,":[89],"3)":[91],"overemphasizing":[92],"contribution":[94,118],"individual":[96],"to":[98,124,129,135,139,144,251],"total":[100],"variability":[101],"particular":[103],"traits.Clinical":[104],"assays":[105],"designed":[108],"using":[109],"GWAS":[113,203],"rely":[115],"on":[116,208],"such":[120],"erroneous":[121],"data":[122,197],"interpretations":[123],"predict":[125],"clinical":[126],"phenotypes,":[127],"reactions":[128],"medications":[130],"or":[131],"foods,":[132],"and/or":[133],"propensity":[134],"develop":[136],"diseases.The":[137],"failure":[138],"recognize":[140],"these":[141,245],"errors":[142],"due":[143],"fallacies":[145],"in":[146,166,213],"logical":[147],"reasoning":[148],"inference":[151],"presents":[152],"problems":[153],"both":[155],"scientific":[157],"community":[158],"when":[159,179],"wrong":[161],"targets":[162],"may":[163,189],"be":[164,190,249],"prioritized":[165],"future":[167],"research":[168],"studies,":[169],"well":[171],"communication":[174],"general":[177],"public":[178],"our":[180],"understanding":[181,235],"important":[187],"traits":[188],"misrepresented":[191],"overstated.Here,":[193],"we":[194],"review":[195],"quality,":[198],"analysis,":[199],"meta-analysis,":[201],"an":[206],"emphasis":[207],"accurate":[209],"reliable":[211],"interpretation.Placed":[212],"appropriate":[215],"context,":[216],"enable":[218],"discovery":[220],"diverse":[225],"traits,":[226],"but":[227],"they":[228],"constitute":[229],"only":[230],"step":[233],"towards":[234],"biological":[237,246],"mechanism(s)":[238],"underlying":[239],"observed":[241],"associations.Scientific":[242],"elucidation":[243],"mechanisms":[247],"must":[248],"required":[250],"establish":[252],"causality":[253],"biochemical":[255],"pathophysiological":[257],"explanations":[258],"any":[260],"putative":[261],"correlations.":[263]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2023-12-24T00:00:00"}
