{"id":"https://openalex.org/W4293523315","doi":"https://doi.org/10.1109/cibcb55180.2022.9863029","title":"Entanglement Mapping: A Novel Method to Detect Interacting SNPs in Genome-Wide Studies","display_name":"Entanglement Mapping: A Novel Method to Detect Interacting SNPs in Genome-Wide Studies","publication_year":2022,"publication_date":"2022-08-15","ids":{"openalex":"https://openalex.org/W4293523315","doi":"https://doi.org/10.1109/cibcb55180.2022.9863029"},"language":"en","primary_location":{"id":"doi:10.1109/cibcb55180.2022.9863029","is_oa":false,"landing_page_url":"https://doi.org/10.1109/cibcb55180.2022.9863029","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2022 IEEE Conference on Computational Intelligence in Bioinformatics and Computational Biology (CIBCB)","raw_type":"proceedings-article"},"type":"article","indexed_in":["crossref"],"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/A5069708508","display_name":"Evanjelin Mahmoodi","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Evanjelin Mahmoodi","raw_affiliation_strings":["National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","National Human Genome Research Institute, National Institutes of Health, Baltimore, MD"],"affiliations":[{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","institution_ids":["https://openalex.org/I4210090236"]},{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health, Baltimore, MD","institution_ids":["https://openalex.org/I4210090236","https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032837105","display_name":"Anthony M. Musolf","orcid":"https://orcid.org/0000-0002-7290-483X"},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anthony M. Musolf","raw_affiliation_strings":["National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","National Human Genome Research Institute, National Institutes of Health, Baltimore, MD"],"affiliations":[{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","institution_ids":["https://openalex.org/I4210090236"]},{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health, Baltimore, MD","institution_ids":["https://openalex.org/I4210090236","https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060440195","display_name":"James D. Malley","orcid":"https://orcid.org/0000-0002-9895-7454"},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"James D. Malley","raw_affiliation_strings":["National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","National Human Genome Research Institute, National Institutes of Health, Baltimore, MD"],"affiliations":[{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","institution_ids":["https://openalex.org/I4210090236"]},{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health, Baltimore, MD","institution_ids":["https://openalex.org/I4210090236","https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029584613","display_name":"Daniel S. Kiser","orcid":null},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Daniel S. Kiser","raw_affiliation_strings":["National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","National Human Genome Research Institute, National Institutes of Health, Baltimore, MD"],"affiliations":[{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","institution_ids":["https://openalex.org/I4210090236"]},{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health, Baltimore, MD","institution_ids":["https://openalex.org/I4210090236","https://openalex.org/I1299303238"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070758929","display_name":"Dwight Stambolian","orcid":null},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dwight Stambolian","raw_affiliation_strings":["University of Pennsylvania,Department of Ophthalmology,Philadelphia,PA","Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA"],"affiliations":[{"raw_affiliation_string":"University of Pennsylvania,Department of Ophthalmology,Philadelphia,PA","institution_ids":["https://openalex.org/I79576946"]},{"raw_affiliation_string":"Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100404194","display_name":"Qing Li","orcid":"https://orcid.org/0009-0005-1327-4347"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Qing Li","raw_affiliation_strings":["National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","National Human Genome Research Institute, National Institutes of Health, Baltimore, MD"],"affiliations":[{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","institution_ids":["https://openalex.org/I4210090236"]},{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health, Baltimore, MD","institution_ids":["https://openalex.org/I4210090236","https://openalex.org/I1299303238"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038440162","display_name":"Joan E. Bailey\u2010Wilson","orcid":"https://orcid.org/0000-0002-9153-2920"},"institutions":[{"id":"https://openalex.org/I4210090236","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210090236"]},{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Joan E. Bailey-Wilson","raw_affiliation_strings":["National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","National Human Genome Research Institute, National Institutes of Health, Baltimore, MD"],"affiliations":[{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health,Baltimore,MD","institution_ids":["https://openalex.org/I4210090236"]},{"raw_affiliation_string":"National Human Genome Research Institute, National Institutes of Health, Baltimore, MD","institution_ids":["https://openalex.org/I4210090236","https://openalex.org/I1299303238"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5069708508"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210090236"],"apc_list":null,"apc_paid":null,"fwci":0.1856,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.61114147,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"10"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9997000098228455,"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":0.9997000098228455,"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":0.9965999722480774,"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/T12254","display_name":"Machine Learning in Bioinformatics","score":0.9900000095367432,"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/missing-heritability-problem","display_name":"Missing heritability problem","score":0.84442138671875},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.7543306350708008},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.720553994178772},{"id":"https://openalex.org/keywords/heritability","display_name":"Heritability","score":0.626083493232727},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.5242581367492676},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5192525386810303},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.5190706849098206},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5128521919250488},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.49907398223876953},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"Linkage disequilibrium","score":0.4551101624965668},{"id":"https://openalex.org/keywords/genetic-architecture","display_name":"Genetic architecture","score":0.4305359125137329},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3355575203895569},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.329201340675354},{"id":"https://openalex.org/keywords/quantitative-trait-locus","display_name":"Quantitative trait locus","score":0.2777719497680664},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.20001861453056335},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.10751348733901978}],"concepts":[{"id":"https://openalex.org/C144621757","wikidata":"https://www.wikidata.org/wiki/Q3083720","display_name":"Missing heritability problem","level":5,"score":0.84442138671875},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7543306350708008},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.720553994178772},{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.626083493232727},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5242581367492676},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5192525386810303},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5190706849098206},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5128521919250488},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.49907398223876953},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.4551101624965668},{"id":"https://openalex.org/C9287583","wikidata":"https://www.wikidata.org/wiki/Q5532883","display_name":"Genetic architecture","level":4,"score":0.4305359125137329},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3355575203895569},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.329201340675354},{"id":"https://openalex.org/C81941488","wikidata":"https://www.wikidata.org/wiki/Q853421","display_name":"Quantitative trait locus","level":3,"score":0.2777719497680664},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.20001861453056335},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.10751348733901978}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/cibcb55180.2022.9863029","is_oa":false,"landing_page_url":"https://doi.org/10.1109/cibcb55180.2022.9863029","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2022 IEEE Conference on Computational Intelligence in Bioinformatics and Computational Biology (CIBCB)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.4300000071525574}],"awards":[],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1980991473","https://openalex.org/W2004159986","https://openalex.org/W2022418363","https://openalex.org/W2023783382","https://openalex.org/W2089797399","https://openalex.org/W2110915351","https://openalex.org/W2117098110","https://openalex.org/W2117197109","https://openalex.org/W2130856032","https://openalex.org/W2136120490","https://openalex.org/W2148981095","https://openalex.org/W2152905639","https://openalex.org/W2252976504","https://openalex.org/W2463909413","https://openalex.org/W2540842333","https://openalex.org/W2598520882","https://openalex.org/W2889104897","https://openalex.org/W2911964244","https://openalex.org/W3016610742","https://openalex.org/W4231211138","https://openalex.org/W4251118878"],"related_works":["https://openalex.org/W1577567365","https://openalex.org/W1523912222","https://openalex.org/W1480804049","https://openalex.org/W4212923765","https://openalex.org/W1965385715","https://openalex.org/W1603579433","https://openalex.org/W1998165549","https://openalex.org/W2477193377","https://openalex.org/W2131251647","https://openalex.org/W2800726709"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1],"studies":[2],"(GWAS)":[3],"have":[4,64,153],"identified":[5],"many":[6],"associated":[7],"SNPs":[8,157,170,179],"across":[9],"a":[10,18,83,99,127,143,159,198,207,228],"variety":[11],"of":[12,46,49,167,200,214,219],"different":[13,223],"diseases.":[14,36],"However,":[15,57],"there":[16],"remains":[17],"significant":[19],"gap":[20],"in":[21,43,96,162,197,222,231],"the":[22,30,35,39,47,132,168,174],"heritability":[23,32,41,51],"explained":[24],"by":[25,141,242],"these":[26,69,78],"GWAS":[27],"results":[28],"and":[29,130,149,211],"total":[31],"predicted":[33],"for":[34,60,86,204,236],"This":[37],"is":[38,52,171],"missing":[40,50],"problem":[42],"genetics.":[44],"One":[45],"sources":[48],"gene-gene":[53,111],"interactions":[54,112],"between":[55,216],"SNPs.":[56,151],"traditional":[58,243],"methods":[59,73],"detecting":[61],"genomic":[62],"associations":[63],"low":[65],"power":[66,115],"to":[67,76,177,183,192],"detect":[68,77,118],"interactions.":[70,79],"Machine":[71],"Learning":[72],"allow":[74],"us":[75],"Here,":[80],"we":[81],"present":[82],"new":[84,234],"method":[85,105],"identifying":[87,232],"interacting":[88,148,156,169,186],"SNPs,":[89],"called":[90,106],"Entanglement":[91],"Mapping":[92],"(EM).":[93],"EM":[94,124,189,225],"works":[95],"conjunction":[97],"with":[98,113],"previously":[100],"developed":[101],"Random":[102],"Forest":[103],"based":[104,146],"r2VIM,":[107],"which":[108,119],"can":[109],"model":[110,145],"high":[114],"but":[116],"cannot":[117],"genes":[120],"are":[121,181,187],"actually":[122],"interacting.":[123],"iteratively":[125],"drops":[126],"single":[128],"SNP":[129],"records":[131],"effect":[133],"on":[134,147],"importance":[135,163],"score.":[136],"We":[137,152],"confirm":[138],"this":[139],"here":[140],"simulating":[142],"genetic":[144,201,220],"non-interacting":[150],"found":[154],"that":[155,180,239],"exhibit":[158],"higher":[160],"drop":[161],"score":[164],"when":[165,178],"one":[166],"excluded":[172],"from":[173],"analysis":[175],"compared":[176],"known":[182],"not":[184],"be":[185,227],"excluded.":[188],"was":[190],"applied":[191],"exome":[193],"chip":[194],"genotype":[195],"data":[196],"study":[199],"risk":[202],"factors":[203],"refractive":[205],"error,":[206],"complex":[208],"eye":[209],"disorder,":[210],"yielded":[212],"evidence":[213],"interaction":[215],"two":[217],"pairs":[218],"variants":[221],"genes.":[224],"will":[226],"useful":[229],"tool":[230],"potential":[233],"targets":[235],"drug":[237],"development":[238],"were":[240],"missed":[241],"GWAS.":[244]},"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2025-11-06T03:46:38.306776","created_date":"2025-10-10T00:00:00"}
