{"id":"https://openalex.org/W2292197830","doi":null,"title":"Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests","display_name":"Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests","publication_year":2014,"publication_date":"2014-07-07","ids":{"openalex":"https://openalex.org/W2292197830","mag":"2292197830"},"language":"en","primary_location":{"id":"pmh:oai:HAL:hal-01037977v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-01037977","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"International Biometric Conference, Jul 2014, Florence, Italy. http://www.ibs-italy.info/welcome.html","raw_type":"info:eu-repo/semantics/conferenceObject"},"volume":null,"type":"conference-paper","is_traditional":true,"indexed_in":[],"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/A5016569676","display_name":"Lise Bellanger","orcid":"https://orcid.org/0000-0001-6369-6744","observed_orcids":["https://orcid.org/0000-0001-6369-6744"]},"institutions":[{"id":"https://openalex.org/I4210153365","display_name":"Laboratoire de Math\u00e9matiques Jean Leray","ror":"https://ror.org/04g1hjn96","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I4210141950","https://openalex.org/I4210153365","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Bellanger, Lise","raw_affiliation_strings":["Laboratoire de Math\u00e9matiques Jean Leray"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Math\u00e9matiques Jean Leray","institution_ids":["https://openalex.org/I4210153365"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047610053","display_name":"Elodie Persyn","orcid":"https://orcid.org/0000-0001-9104-1972","observed_orcids":["https://orcid.org/0000-0001-9104-1972"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Persyn, Elodie","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042676176","display_name":"Floriane Simonet","orcid":"https://orcid.org/0000-0002-6366-7211","observed_orcids":["https://orcid.org/0000-0002-6366-7211"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Simonet, Floriane","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041253450","display_name":"Richard Redon","orcid":"https://orcid.org/0000-0001-7751-2280","observed_orcids":["https://orcid.org/0000-0001-7751-2280"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Redon, Richard","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031579548","display_name":"Jean\u2010Jacques Schott","orcid":"https://orcid.org/0000-0002-9578-9475","observed_orcids":["https://orcid.org/0000-0002-9578-9475","https://orcid.org/0000-0001-6731-8310"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Schott, Jean-Jacques","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031197087","display_name":"Solena Le Scouarnec","orcid":"https://orcid.org/0000-0003-3444-2125","observed_orcids":["https://orcid.org/0000-0003-3444-2125"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Le Scouarnec, Solena","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089651229","display_name":"Matilde Karakachoff","orcid":"https://orcid.org/0000-0003-4318-9141","observed_orcids":["https://orcid.org/0000-0003-4318-9141"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Karakachoff, Matilde","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5035511168","display_name":"Christian Dina","orcid":"https://orcid.org/0000-0002-7722-7348","observed_orcids":["https://orcid.org/0000-0002-7722-7348"]},"institutions":[{"id":"https://openalex.org/I4210144168","display_name":"Institut du Thorax","ror":"https://ror.org/049kkt456","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210096427","https://openalex.org/I4210144168","https://openalex.org/I97188460"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Dina, Christian","raw_affiliation_strings":["ITX - unit\u00e9 de recherche de l'institut du thorax"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ITX - unit\u00e9 de recherche de l'institut du thorax","institution_ids":["https://openalex.org/I4210144168"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.13743455,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"http://www.ibs","last_page":"italy.info/welcome.html"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9785000085830688,"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":0.9785000085830688,"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":0.01720000058412552,"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/T10012","display_name":"Genetic diversity and population structure","score":0.0005000000237487257,"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-variants","display_name":"rare variants","score":0.8939999938011169},{"id":"https://openalex.org/keywords/genetic-disorders","display_name":"genetic disorders","score":0.8550000190734863},{"id":"https://openalex.org/keywords/comparison-of-statistical-tests","display_name":"comparison of statistical tests","score":0.6650000214576721},{"id":"https://openalex.org/keywords/genetic-association","display_name":"genetic association","score":0.5730000138282776}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5684796571731567},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5163589715957642},{"id":"https://openalex.org/C70437156","wikidata":"https://www.wikidata.org/wiki/Q7228652","display_name":"Pooling","level":2,"score":0.5018677711486816},{"id":"https://openalex.org/C2994538360","wikidata":"https://www.wikidata.org/wiki/Q774081","display_name":"Association test","level":5,"score":0.4993419647216797},{"id":"https://openalex.org/C169857963","wikidata":"https://www.wikidata.org/wiki/Q1461038","display_name":"Test statistic","level":3,"score":0.4799809157848358},{"id":"https://openalex.org/C87007009","wikidata":"https://www.wikidata.org/wiki/Q210832","display_name":"Statistical hypothesis testing","level":2,"score":0.47691938281059265},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.47238755226135254},{"id":"https://openalex.org/C89128539","wikidata":"https://www.wikidata.org/wiki/Q1949963","display_name":"Statistic","level":2,"score":0.43987542390823364},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.430038183927536},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3379266858100891},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.3269699215888977},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.304323673248291},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.26112958788871765},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.2398930788040161},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.16905689239501953},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.16823801398277283},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:HAL:hal-01037977v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-01037977","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"International Biometric Conference, Jul 2014, Florence, Italy. http://www.ibs-italy.info/welcome.html","raw_type":"info:eu-repo/semantics/conferenceObject"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.5683000087738037,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2285300618","https://openalex.org/W2395593686","https://openalex.org/W2143962878","https://openalex.org/W7098521083","https://openalex.org/W2346900449","https://openalex.org/W2949040738","https://openalex.org/W2063655230","https://openalex.org/W2050026402","https://openalex.org/W2104776392","https://openalex.org/W4388914802"],"abstract_inverted_index":{"Many":[0],"genome":[1],"wide-association":[2],"studies":[3],"(GWAS)":[4],"have":[5],"been":[6],"performed":[7],"to":[8,48,72,87,116,129,160,241,250],"assess":[9],"genetic":[10,32],"factors":[11],"involved":[12],"in":[13,74,147,335,341],"complex":[14,30,59],"diseases.":[15],"However,":[16],"most":[17],"of":[18,28,41,52,65,78,99,119,125,170,229,237,256,258,285,305,314,332],"the":[19,29,38,45,50,76,88,93,100,117,126,131,162,224,227,315,318,336,342],"associated":[20],"common":[21,107,289],"variants":[22,54,70,108,135,145,260],"explain":[23],"only":[24],"a":[25,62,96,148,168,253,303],"small":[26,85],"proportion":[27],"diseases":[31,137],"architecture.":[33],"This":[34,91],"empirical":[35],"observation":[36],"and":[37,82,136,190,212,226,247,249,288,309,329],"fast":[39],"development":[40,118],"whole-genome":[42],"sequencing":[43,296],"led":[44],"research":[46,67],"community":[47],"reconsider":[49],"importance":[51],"rare":[53,69,80,113,134,144,175,259,281,287],"for":[55,105,112,174],"identifying":[56],"association":[57,132,181],"with":[58,302],"disease.":[60],"From":[61],"statistical":[63,102,171,232,330],"point":[64],"view,":[66],"about":[68,243],"imposes":[71],"take":[73],"account":[75],"problem":[77],"their":[79,83,264],"occurrence":[81],"individually":[84],"contributions":[86],"disease":[89],"susceptibility.":[90],"is":[92,240],"reason":[94],"why":[95],"large":[97],"part":[98],"existing":[101,231],"methods":[103,127,172,204,213],"implemented":[104],"analyzing":[106,245],"do":[109],"not":[110],"work":[111,269],"variants,":[114,176,290],"leading":[115],"many":[120],"specific":[121],"new":[122],"tests.":[123,261],"Most":[124],"allowing":[128],"detect":[130],"between":[133],"consist":[138],"on":[139,206,215,223,270,294,299,327],"collapsing":[140],"or":[141,150,279],"pooling":[142],"multiple":[143],"together":[146],"single":[149],"some":[151],"\"supervariant(s)\".":[152],"Collective":[153],"frequencies":[154],"will":[155,221,267,324],"then":[156],"be":[157,325],"reasonably":[158],"high":[159],"test":[161,334],"computed":[163],"collapsed":[164],"genotype":[165],"variable.":[166],"Currently":[167],"lot":[169],"exist":[173],"including":[177],"among":[178],"others":[179],"pooled":[180],"tests":[182],"(Cohort":[183],"Allelic":[184],"Sums":[185],"Test":[186,198],"(CAST),":[187],"Combined":[188],"Multivariate":[189],"Collapsing":[191],"(CMC),":[192],"Weighted":[193],"Sum":[194],"Statistic":[195],"(WSS),":[196],"Replication-Based":[197],"(RBT),":[199],"Variable":[200],"Threshold":[201],"approach":[202],"(VT)),":[203],"based":[205,214],"model":[207],"selection":[208],"(C-alpha":[209],"test,":[210],"...)":[211,291],"kernel":[216],"(KBAC,":[217],"SKAT).":[218],"Our":[219],"study":[220,239],"focus":[222],"comparison":[225],"evaluation":[228],"these":[230],"methods.":[233],"The":[234],"main":[235],"objective":[236],"this":[238],"learn":[242],"methods,":[244],"advantages":[246],"limitations,":[248],"draw":[251],"up":[252],"warning":[254],"guide":[255],"use":[257],"To":[262],"investigate":[263],"performance,":[265],"we":[266],"both":[268,286],"simulated":[271],"data,":[272],"reflecting":[273],"various":[274],"possible":[275],"real":[276,295],"scenarios":[277],"(independent":[278],"correlated":[280],"mutations;":[282],"different":[283],"effects":[284],"but":[292,339],"also":[293,340],"data":[297,313],"consisting":[298],"200":[300],"patients":[301],"diagnosis":[304],"Brugada":[306],"Syndrome":[307],"(BrS)":[308],"1000":[310],"available":[311],"exome":[312],"cohort":[316],"from":[317],"project":[319],"UK10K,":[320],"as":[321],"controls.":[322],"Comparison":[323],"made":[326],"robustness":[328],"power":[331],"each":[333],"simulation":[337],"set-ups":[338],"practical":[343],"set-up.":[344]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
