{"id":"https://openalex.org/W1678675262","doi":null,"title":"Inference of Causal Relationships between Biomarkers and Outcomes in High Dimensions","display_name":"Inference of Causal Relationships between Biomarkers and Outcomes in High Dimensions","publication_year":2011,"publication_date":"2011-12-01","ids":{"openalex":"https://openalex.org/W1678675262","mag":"1678675262"},"language":"en","primary_location":{"id":"pmh:oai:doaj.org/article:1f1314018d804f3f9105ab19ab6c07eb","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1f1314018d804f3f9105ab19ab6c07eb","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Systemics, Cybernetics and Informatics, Vol 9, Iss 6, Pp 1-8 (2011)","raw_type":"article"},"volume":null,"type":"article","indexed_in":["doaj"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doaj.org/article/1f1314018d804f3f9105ab19ab6c07eb","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015937614","display_name":"Felix V. Agakov","orcid":"https://orcid.org/0000-0003-4280-9062","observed_orcids":["https://orcid.org/0000-0003-4280-9062"]},"institutions":[{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Felix Agakov","raw_affiliation_strings":["\nUniversity of Edinburgh\n"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\nUniversity of Edinburgh\n","institution_ids":["https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039750697","display_name":"Paul McKeigue","orcid":"https://orcid.org/0000-0002-5217-1034","observed_orcids":["https://orcid.org/0000-0002-5217-1034"]},"institutions":[{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Paul Mckeigue","raw_affiliation_strings":["\nUniversity of Edinburgh\n"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\nUniversity of Edinburgh\n","institution_ids":["https://openalex.org/I98677209"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113857388","display_name":"Jon P. Krohn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I87048295","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jon Krohn","raw_affiliation_strings":["\nWellcome Trust Center for Human Genetics\n"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\nWellcome Trust Center for Human Genetics\n","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I87048295"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5011108322","display_name":"Jonathan Flint","orcid":"https://orcid.org/0000-0002-9427-4429","observed_orcids":["https://orcid.org/0000-0002-9427-4429"]},"institutions":[{"id":"https://openalex.org/I1336263701","display_name":"Centre for Human Genetics","ror":"https://ror.org/01rjnta51","country_code":"GB","type":"facility","lineage":["https://openalex.org/I1336263701","https://openalex.org/I40120149"]},{"id":"https://openalex.org/I87048295","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I87048295"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jonathan Flint","raw_affiliation_strings":["\nWellcome Trust Center for Human Genetics\n"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\nWellcome Trust Center for Human Genetics\n","institution_ids":["https://openalex.org/I1336263701","https://openalex.org/I87048295"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.48,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.61832206,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"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":0.6718999743461609,"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":0.6718999743461609,"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":0.13819999992847443,"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/T10136","display_name":"Statistical Methods and Inference","score":0.034299999475479126,"subfield":{"id":"https://openalex.org/subfields/2613","display_name":"Statistics and Probability"},"field":{"id":"https://openalex.org/fields/26","display_name":"Mathematics"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/causal-inference","display_name":"causal inference","score":0.9459999799728394},{"id":"https://openalex.org/keywords/biomarkers","display_name":"biomarkers","score":0.7879999876022339},{"id":"https://openalex.org/keywords/high-dimensional-data","display_name":"high-dimensional data","score":0.7509999871253967},{"id":"https://openalex.org/keywords/instrumental-variables","display_name":"instrumental variables","score":0.6320000290870667},{"id":"https://openalex.org/keywords/genotypes","display_name":"genotypes","score":0.7459999918937683},{"id":"https://openalex.org/keywords/pleiotropy","display_name":"pleiotropy","score":0.7739999890327454},{"id":"https://openalex.org/keywords/missing-data","display_name":"missing data","score":0.7730000019073486},{"id":"https://openalex.org/keywords/hidden-confounders","display_name":"hidden confounders","score":0.8989999890327454},{"id":"https://openalex.org/keywords/quantitative-trait-loci","display_name":"quantitative trait loci","score":0.8190000057220459},{"id":"https://openalex.org/keywords/fine-mapping","display_name":"fine mapping","score":0.9620000123977661},{"id":"https://openalex.org/keywords/hdl-cholesterol","display_name":"HDL cholesterol","score":0.652999997138977},{"id":"https://openalex.org/keywords/hepatic-gene-expression","display_name":"hepatic gene expression","score":0.7250000238418579},{"id":"https://openalex.org/keywords/network-structure-learning","display_name":"network structure learning","score":0.5360000133514404}],"concepts":[{"id":"https://openalex.org/C158600405","wikidata":"https://www.wikidata.org/wiki/Q5054566","display_name":"Causal inference","level":2,"score":0.6618289947509766},{"id":"https://openalex.org/C2776214188","wikidata":"https://www.wikidata.org/wiki/Q408386","display_name":"Inference","level":2,"score":0.5827760696411133},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.39643481373786926},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3786450922489166},{"id":"https://openalex.org/C149782125","wikidata":"https://www.wikidata.org/wiki/Q160039","display_name":"Econometrics","level":1,"score":0.2702619731426239},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.25906944274902344},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.17941144108772278}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:doaj.org/article:1f1314018d804f3f9105ab19ab6c07eb","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1f1314018d804f3f9105ab19ab6c07eb","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Systemics, Cybernetics and Informatics, Vol 9, Iss 6, Pp 1-8 (2011)","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:doaj.org/article:1f1314018d804f3f9105ab19ab6c07eb","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/1f1314018d804f3f9105ab19ab6c07eb","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Systemics, Cybernetics and Informatics, Vol 9, Iss 6, Pp 1-8 (2011)","raw_type":"article"},"sustainable_development_goals":[{"score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":44,"referenced_works":["https://openalex.org/W1513618424","https://openalex.org/W1516178287","https://openalex.org/W1567512734","https://openalex.org/W1584686383","https://openalex.org/W1648445109","https://openalex.org/W1972696558","https://openalex.org/W1982652137","https://openalex.org/W1983259675","https://openalex.org/W1990942362","https://openalex.org/W2000186580","https://openalex.org/W2045656233","https://openalex.org/W2050502901","https://openalex.org/W2074682976","https://openalex.org/W2074693857","https://openalex.org/W2079775628","https://openalex.org/W2080460005","https://openalex.org/W2091901410","https://openalex.org/W2094414211","https://openalex.org/W2099111195","https://openalex.org/W2109227198","https://openalex.org/W2117007075","https://openalex.org/W2119479037","https://openalex.org/W2122598723","https://openalex.org/W2122825543","https://openalex.org/W2127064102","https://openalex.org/W2127300249","https://openalex.org/W2135046866","https://openalex.org/W2136145671","https://openalex.org/W2136905437","https://openalex.org/W2137099275","https://openalex.org/W2138290169","https://openalex.org/W2143117649","https://openalex.org/W2143891888","https://openalex.org/W2146571341","https://openalex.org/W2159561933","https://openalex.org/W2162683818","https://openalex.org/W2165363188","https://openalex.org/W2166471851","https://openalex.org/W2171408260","https://openalex.org/W2313914504","https://openalex.org/W2911546748","https://openalex.org/W2964052841","https://openalex.org/W3133236490","https://openalex.org/W3140968660"],"related_works":["https://openalex.org/W7098042145","https://openalex.org/W2135488903","https://openalex.org/W2532102959","https://openalex.org/W2176072324","https://openalex.org/W7171923774","https://openalex.org/W4389475488","https://openalex.org/W2945690714","https://openalex.org/W2789504560","https://openalex.org/W4416926677","https://openalex.org/W4238418319"],"abstract_inverted_index":{"We":[0],"describe":[1],"a":[2,143,149],"unified":[3],"computational":[4],"framework":[5,25,75],"for":[6,27,90,110],"learning":[7,86],"causal":[8,53],"dependencies":[9],"between":[10,55],"genotypes,":[11],"biomarkers,":[12],"and":[13,34,58,84,87],"phenotypic":[14,56],"outcomes":[15],"from":[16,148],"large-scale":[17],"data.":[18],"In":[19],"contrast":[20],"to":[21,51],"previous":[22],"studies,":[23],"our":[24,125],"allows":[26],"noisy":[28],"measurements,":[29],"hidden":[30],"confounders,":[31],"missing":[32],"data,":[33],"pleiotropic":[35],"effects":[36,66,129],"of":[37,46,93,113,130,145],"genotypes":[38,47],"on":[39,77,137],"outcomes.":[40],"The":[41,74],"method":[42,106],"exploits":[43],"the":[44,62,71,100,105,135],"use":[45],"as":[48],"\u201cinstrumental":[49],"variables\u201d":[50],"infer":[52],"associations":[54],"biomarkers":[57,101],"outcomes,":[59],"without":[60],"requiring":[61],"assumption":[63],"that":[64],"genotypic":[65],"are":[67,102],"mediated":[68],"only":[69],"through":[70],"observed":[72],"biomarkers.":[73],"builds":[76],"sparse":[78],"linear":[79],"methods":[80],"developed":[81],"in":[82,119,134,142],"statistics":[83],"machine":[85],"modified":[88],"here":[89],"inferring":[91],"structures":[92],"richer":[94],"networks":[95],"with":[96],"latent":[97],"variables.":[98],"Where":[99],"gene":[103,131],"transcripts,":[104],"can":[107],"be":[108],"used":[109],"fine":[111],"mapping":[112],"quantitative":[114],"trait":[115],"loci":[116],"(QTLs)":[117],"detected":[118],"genetic":[120],"linkage":[121],"studies.":[122],"To":[123],"demonstrate":[124],"method,":[126],"we":[127],"examined":[128],"transcript":[132],"levels":[133,141],"liver":[136],"plasma":[138],"HDL":[139],"cholesterol":[140],"sample":[144],"260":[146],"mice":[147],"heterogeneous":[150],"stock.":[151]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
