{"id":"https://openalex.org/W2298472301","doi":"https://doi.org/10.15496/publikation-8322","title":"easyGWAS: An Integrated Computational Framework for Advanced Genome-Wide Association Studies","display_name":"easyGWAS: An Integrated Computational Framework for Advanced Genome-Wide Association Studies","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2298472301","doi":"https://doi.org/10.15496/publikation-8322","mag":"2298472301"},"language":"en","primary_location":{"id":"pmh:oai:escidoc.org:escidoc:2273301","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-002A-550C-3","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":[],"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/other"},"type":"dissertation","indexed_in":["datacite"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.15496/publikation-8322","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5009539507","display_name":"Dominik G. Grimm","orcid":"https://orcid.org/0000-0003-2085-4591"},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Grimm, Dominik Gerhard","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5009539507"],"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9984999895095825,"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":0.9984999895095825,"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":0.9977999925613403,"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"}},{"id":"https://openalex.org/T10885","display_name":"Gene expression and cancer classification","score":0.9937000274658203,"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":0.5498875379562378},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5038112998008728},{"id":"https://openalex.org/keywords/association","display_name":"Association (psychology)","score":0.4627995193004608},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.38534438610076904},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.36632513999938965},{"id":"https://openalex.org/keywords/data-science","display_name":"Data science","score":0.35699790716171265},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2261643409729004},{"id":"https://openalex.org/keywords/psychology","display_name":"Psychology","score":0.17821583151817322},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.07700496912002563},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.0636884868144989}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5498875379562378},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5038112998008728},{"id":"https://openalex.org/C142853389","wikidata":"https://www.wikidata.org/wiki/Q744778","display_name":"Association (psychology)","level":2,"score":0.4627995193004608},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.38534438610076904},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36632513999938965},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.35699790716171265},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2261643409729004},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.17821583151817322},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.07700496912002563},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0636884868144989},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C542102704","wikidata":"https://www.wikidata.org/wiki/Q183257","display_name":"Psychotherapist","level":1,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"pmh:oai:escidoc.org:escidoc:2273301","is_oa":false,"landing_page_url":"http://hdl.handle.net/11858/00-001M-0000-002A-550C-3","pdf_url":null,"source":{"id":"https://openalex.org/S7407052962","display_name":"Max Planck Digital Library","issn_l":null,"issn":[],"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"info:eu-repo/semantics/other"},{"id":"pmh:oai:mediatum.ub.tum.de:node/1507732","is_oa":false,"landing_page_url":"https://mediatum.ub.tum.de/node?id=1507732","pdf_url":null,"source":{"id":"https://openalex.org/S4306400453","display_name":"mediaTUM \u2013 the media and publications repository of the Technical University Munich (Technical University Munich)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I62916508","host_organization_name":"Technical University of Munich","host_organization_lineage":["https://openalex.org/I62916508"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"thesis"},{"id":"pmh:oai:pure.mpg.de:item_2273301","is_oa":false,"landing_page_url":"https://hdl.handle.net/11858/00-001M-0000-002A-550C-3","pdf_url":null,"source":{"id":"https://openalex.org/S4306400654","display_name":"MPG.PuRe (Max Planck Society)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I149899117","host_organization_name":"Max Planck Society","host_organization_lineage":["https://openalex.org/I149899117"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/doctoralThesis"},{"id":"doi:10.15496/publikation-8322","is_oa":true,"landing_page_url":"https://doi.org/10.15496/publikation-8322","pdf_url":null,"source":{"id":"https://openalex.org/S7407053000","display_name":"Universit\u00e4tsbibliothek T\u00fcbingen","issn_l":null,"issn":[],"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":"thesis"},{"id":"mag:2298472301","is_oa":false,"landing_page_url":"https://bibliographie.uni-tuebingen.de/xmlui/handle/10900/66902","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":null,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.15496/publikation-8322","is_oa":true,"landing_page_url":"https://doi.org/10.15496/publikation-8322","pdf_url":null,"source":{"id":"https://openalex.org/S7407053000","display_name":"Universit\u00e4tsbibliothek T\u00fcbingen","issn_l":null,"issn":[],"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"thesis"},"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":2,"referenced_works":["https://openalex.org/W2110808585","https://openalex.org/W2141916112"],"related_works":["https://openalex.org/W2559949023","https://openalex.org/W2951427191","https://openalex.org/W1497834814","https://openalex.org/W3012787339","https://openalex.org/W2945057762","https://openalex.org/W178970594","https://openalex.org/W2615599153","https://openalex.org/W3042052444","https://openalex.org/W357070448"],"abstract_inverted_index":{"Recent":[0],"advances":[1],"in":[2,24,30,111,353,467,665,683,757],"sequencing":[3],"technologies":[4],"have":[5,139,154,618],"made":[6],"it":[7,107,283,333,398],"possible":[8],"for":[9,215,228,309,417,545,631],"the":[10,17,38,50,123,132,199,205,236,270,273,290,297,346,354,357,376,427,438,474,477,529,578,611,634,642,653,657,666,674,688,697,724,747,780,785,802,808],"first":[11],"time":[12],"to":[13,45,68,103,119,130,142,156,184,195,276,305,316,393,434,452,456,486,508,525,543,558,569,576,602,621,629,692,706,727,752,776,798],"sequence":[14],"and":[15,29,48,160,178,186,218,231,252,265,280,332,385,425,448,458,461,465,492,503,548,626,686,749,788,813],"analyse":[16],"genomes":[18],"of":[19,22,34,37,41,53,77,89,122,134,150,163,168,198,207,238,272,326,338,356,360,370,383,389,405,409,429,437,463,476,490,505,519,528,580,582,633,641,656,676,690,700,702,716,771,779,801,810],"whole":[20],"populations":[21],"individuals":[23],"both":[25],"a":[26,31,75,83,127,157,174,244,253,323,367,446,454,468,495,563,590,662,703,713,732],"cost-effective":[27],"manner":[28],"reasonable":[32],"amount":[33],"time.":[35],"One":[36],"primary":[39],"applications":[40],"this":[42,59,191,442,597,720],"data":[43,176,246,460],"is":[44,82,284,334,378,399,567,696],"better":[46],"understand":[47],"investigate":[49,345,673,753],"genetic":[51,583,624,678],"basis":[52],"common":[54,175,245],"traits":[55],"or":[56,98,420],"diseases.":[57],"For":[58,441,719],"purpose,":[60,443,721],"genome-wide":[61,546],"association":[62,240,647],"studies":[63,113],"(GWASs)":[64],"are":[65,72,350,403,415,540,555,586,608,627,792],"often":[66,117,541,556],"used":[67,416],"find":[69,281,374,615],"loci":[70,116,308,521,625],"that":[71,114,282,375,386,401,535,550,566,585,616,695,763,773,796],"associated":[73,115,307,588,755],"with":[74,301,589],"phenotype":[76],"interest.":[78],"However,":[79,322,532],"conducting":[80,661],"GWASs":[81,230,431,464,491,730],"challenging":[84],"endeavour:":[85],"first,":[86],"different":[87,208,407,488,729],"types":[88,382,388,408,489],"hidden":[90],"confounding":[91],"factors,":[92],"such":[93,327,815],"as":[94,131,287,289,313,315,573,712,735,737],"population":[95],"structure,":[96,247],"environmental":[97],"technical":[99],"influences,":[100],"could":[101,432,522,774],"lead":[102,392],"spurious":[104,394],"associations.":[105],"Second,":[106],"has":[108],"been":[109,140],"shown":[110],"several":[112,430],"fail":[118],"explain":[120,196,435,526,777,799],"much":[121],"phenotypic":[124,643,698],"variability":[125],"\u2014":[126,694,711],"phenomenon":[128],"referred":[129],"problem":[133],"missing":[135,200,439,530,635,717,781,803],"heritability.":[136,440,531,718,782],"Many":[137],"tools":[138,170,279,330,340,363,414],"developed":[141],"partly":[143],"address":[144],"these":[145,151,169,339,387,406],"challenges.":[146],"The":[147,516],"large":[148,324,368],"diversity":[149],"tools,":[152],"however,":[153],"led":[155],"highly":[158],"fragmented":[159],"confusing":[161],"landscape":[162],"tools.":[164,293],"In":[165,190,258,497,783],"addition,":[166,259,498],"most":[167],"do":[171,179],"not":[172,180,335],"share":[173,457],"format":[177],"provide":[181,453],"straightforward":[182,469],"solutions":[183],"visualise":[185],"annotate":[187],"their":[188,707],"results.":[189],"thesis,":[192],"we":[193,222,295,444,594,651,672,722,745],"aim":[194],"more":[197,510,758,800],"heritability,":[201,804],"while":[202,805],"simultaneously":[203,806],"simplifying":[204,807],"usage":[206],"methods,":[209],"by":[210,242,380,480,637,660],"providing":[211,243,481],"an":[212,225,248,262,482,768],"integral":[213],"solution":[214],"performing,":[216],"visualising":[217],"annotating":[219],"GWASs.":[220],"Therefore,":[221],"develop":[223,445,562],"easyGWASCore,":[224],"integrated":[226,609],"framework":[227,234,275,479,598,659,726,787],"performing":[229],"meta-analyses.":[232],"Our":[233,760],"facilitates":[235,473],"use":[237,475,746],"popular":[239],"methods":[241,534,549,607],"application":[249],"programming":[250],"interface":[251],"Python":[254],"command":[255],"line":[256],"interface.":[257],"easyGWASCore":[260,274,298,478,612,658,725,786],"offers":[261,500],"out-of-the-box":[263],"visualisation":[264,748],"annotation":[266,299,750],"pipeline.":[267],"We":[268,343,373,560,614],"compare":[269],"runtime":[271],"other":[277],"well-established":[278],"at":[285],"least":[286],"efficient":[288],"individual":[291],"software":[292],"Next,":[294],"enrich":[296],"pipeline":[300,751],"pathogenicity":[302,328,361,412],"prediction":[303,329,362,413],"scores":[304],"prioritise":[306],"further":[310,418],"biological":[311,395,571],"investigation,":[312],"well":[314,736],"narrow":[317],"down":[318],"potentially":[319],"causal":[320],"loci.":[321],"variety":[325],"exists":[331],"obvious":[336],"which":[337],"work":[341],"best.":[342],"therefore":[344],"question":[347],"whether":[348],"there":[349],"systematic":[351],"differences":[352],"quality":[355],"predictive":[358],"performance":[359],"when":[364,411],"evaluated":[365],"on":[366,537,552,680],"number":[369],"variant":[371],"databases.":[372],"evaluation":[377],"hindered":[379],"two":[381,793],"circularity":[384,390,410],"might":[391,766],"interpretation.":[396],"Hence,":[397],"important":[400,769],"scientists":[402],"aware":[404],"experiments":[419],"analyses.":[421],"Increasing":[422],"sample":[423],"sizes":[424],"combining":[426],"results":[428,462,507,761],"help":[433,524,775,797],"parts":[436,527,632,778],"cloud":[447,790],"web-service,":[449],"called":[450],"easyGWAS,":[451],"platform":[455],"publish":[459],"meta-analyses":[466,493],"manner.":[470],"Simultaneously,":[471],"easyGWAS":[472,499,789],"easy-to-use":[483],"step-by-step":[484],"procedure":[485],"conduct":[487,728],"via":[494],"web-browser.":[496],"dynamic":[501],"visualisations":[502],"annotations":[504],"GWAS":[506],"obtain":[509],"detailed":[511],"information":[512,772],"about":[513],"specific":[514],"regions.":[515],"joint":[517],"effect":[518,675],"multiple":[520,603],"also":[523],"multi-locus":[533,742],"focus":[536,551],"multiplicative":[538],"effects":[539,554,765],"unfeasible":[542],"compute":[544],"settings":[547],"additive":[553],"hard":[557],"interpret.":[559],"here":[561],"novel":[564,623,739,794],"method":[565],"able":[568,628],"integrate":[570],"networks":[572],"prior":[574],"knowledge":[575],"guide":[577],"detection":[579],"sets":[581],"markers":[584],"maximally":[587],"given":[591],"phenotype.":[592],"Furthermore,":[593],"show":[595],"how":[596],"can":[599],"be":[600,767],"extended":[601],"correlated":[604],"traits.":[605],"Both":[606],"into":[610],"framework.":[613],"they":[617],"improved":[619],"abilities":[620],"discover":[622],"account":[630],"heritability":[636],"explaining":[638],"larger":[639],"proportions":[640],"variance":[644,679],"than":[645],"univariate":[646,733],"testing":[648],"methods.":[649],"Finally,":[650],"demonstrate":[652],"full":[654],"potential":[655,714],"comprehensive":[663],"study":[664],"model":[667],"organism":[668],"Arabidopsis":[669,684],"thaliana.":[670],"Here,":[671],"non-additive":[677,764],"hybrid":[681],"phenotypes":[682],"thaliana":[685],"characterise":[687],"contribution":[689],"dominance":[691],"heterosis":[693],"superiority":[699],"progeny":[701],"cross":[704],"relative":[705],"genetically":[708],"distinct":[709],"parents":[710],"source":[715,770],"utilise":[723],"using":[731],"method,":[734],"our":[738],"network":[740],"guided":[741],"approach.":[743],"Subsequently":[744],"significantly":[754],"regions":[756],"detail.":[759],"suggest":[762],"summary,":[784],"service":[791],"approaches":[795],"process":[809],"conducting,":[811],"analysing":[812],"managing":[814],"studies.":[816]},"counts_by_year":[],"updated_date":"2026-07-01T06:00:48.157686","created_date":"2025-10-10T00:00:00"}