{"id":"https://openalex.org/W2888101241","doi":"https://doi.org/10.1145/3233547.3233688","title":"Cross-Population Analysis for Functional Characterization of Type II Diabetes Variants","display_name":"Cross-Population Analysis for Functional Characterization of Type II Diabetes Variants","publication_year":2018,"publication_date":"2018-08-15","ids":{"openalex":"https://openalex.org/W2888101241","doi":"https://doi.org/10.1145/3233547.3233688","mag":"2888101241"},"language":"en","primary_location":{"id":"doi:10.1145/3233547.3233688","is_oa":false,"landing_page_url":"https://doi.org/10.1145/3233547.3233688","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the 2018 ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics","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/A5061940987","display_name":"Dalia Elmansy","orcid":null},"institutions":[{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dalia Elmansy","raw_affiliation_strings":["Case Western Reserve University, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Case Western Reserve University, Cleveland, OH, USA","institution_ids":["https://openalex.org/I58956616"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5035558591","display_name":"Mehmet Koyut\u00fcrk","orcid":"https://orcid.org/0000-0002-3434-5512"},"institutions":[{"id":"https://openalex.org/I58956616","display_name":"Case Western Reserve University","ror":"https://ror.org/051fd9666","country_code":"US","type":"education","lineage":["https://openalex.org/I58956616"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mehmet Koyut\u00fcrk","raw_affiliation_strings":["Case Western Reserve University, Cleveland, OH, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Case Western Reserve University, Cleveland, OH, USA","institution_ids":["https://openalex.org/I58956616"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.1792,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.63333701,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":null,"issue":null,"first_page":"595","last_page":"595"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9987999796867371,"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":0.9987999796867371,"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":0.9983999729156494,"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":0.9775999784469604,"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/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.6501328349113464},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"Genome-wide association study","score":0.5629746913909912},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.48572999238967896},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.4706921875476837},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.4594612121582031},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.45479634404182434},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.4351794123649597},{"id":"https://openalex.org/keywords/1000-genomes-project","display_name":"1000 Genomes Project","score":0.43132662773132324},{"id":"https://openalex.org/keywords/population","display_name":"Population","score":0.42499545216560364},{"id":"https://openalex.org/keywords/evolutionary-biology","display_name":"Evolutionary biology","score":0.3621455729007721},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.24498781561851501},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.14716669917106628},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.0871647298336029}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6501328349113464},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.5629746913909912},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.48572999238967896},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4706921875476837},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.4594612121582031},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.45479634404182434},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4351794123649597},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.43132662773132324},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.42499545216560364},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3621455729007721},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24498781561851501},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.14716669917106628},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.0871647298336029},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1145/3233547.3233688","is_oa":false,"landing_page_url":"https://doi.org/10.1145/3233547.3233688","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the 2018 ACM International Conference on Bioinformatics, Computational Biology, and Health Informatics","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.7300000190734863,"id":"https://metadata.un.org/sdg/3"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1997352593","https://openalex.org/W2143489661","https://openalex.org/W3016573916","https://openalex.org/W4281711902","https://openalex.org/W3206555169","https://openalex.org/W2070581548","https://openalex.org/W3157359833","https://openalex.org/W2413660786","https://openalex.org/W3024317680","https://openalex.org/W1511048503"],"abstract_inverted_index":{"Abstract":[0],"Objective.":[1],"As":[2],"Genome-Wide":[3],"Association":[4],"Studies":[5],"(GWAS)":[6],"have":[7],"been":[8,18],"increasingly":[9],"used":[10],"with":[11,36,62,190,236],"data":[12,21,139],"from":[13,22,121,149],"various":[14],"populations,":[15,216,225],"it":[16],"has":[17],"observed":[19,161],"that":[20,33,131,159,185,204,211,227,246],"different":[23,26,89,93,177,181,215],"populations":[24,120,170,235],"reveal":[25],"sets":[27,91],"of":[28,59,75,83,111,167,176,197],"Single":[29],"Nucleotide":[30],"Polymorphisms":[31],"(SNPs)":[32],"are":[34,212],"associated":[35,61],"the":[37,56,63,73,85,109,146,164,174,191,194,228,244],"same":[38,64],"disease.":[39],"Using":[40,98],"Type":[41],"II":[42],"Diabetes":[43],"(T2D)":[44],"as":[45,79,136,142],"a":[46,80],"test":[47],"case,":[48],"we":[49,107,143],"develop":[50],"measures":[51],"and":[52,69,95,104,123,151,226],"methods":[53],"to":[54,249],"characterize":[55],"functional":[57,86,96,101,112,138,165,195,222,229],"overlap":[58,87,113,133,155,223],"SNPs":[60,150],"disease":[65],"across":[66,118,169,224],"populations.":[67,182],"Materials":[68],"methods.":[70],"We":[71,157,183],"introduce":[72],"notion":[74,245],"an":[76],"Overlap":[77],"Matrix":[78],"general":[81],"means":[82],"characterizing":[84],"between":[88,234],"SNP":[90],"at":[92,153],"genomic":[94],"granularities.":[97],"SNP-to-gene":[99],"mapping,":[100],"annotation":[102],"databases,":[103],"interaction":[105],"networks,":[106],"assess":[108],"degree":[110],"in":[114,163,180,214,254],"T2D-associated":[115],"loci":[116],"identified":[117],"nine":[119],"Asian":[122],"European":[124],"ethnic":[125,238],"origins.":[126,239],"Results.":[127],"Our":[128,201],"results":[129,202,242],"show":[130,184,203],"more":[132,137,221,232],"is":[134,140,188,231],"captured":[135],"incorporated":[141],"go":[144],"through":[145],"pipeline,":[147],"starting":[148],"ending":[152],"network":[154],"analyses.":[156],"hypothesize":[158],"these":[160],"differences":[162],"mechanisms":[166,196],"T2D":[168,209],"can":[171,219],"also":[172],"explain":[173],"popularity":[175],"prescription":[178,198],"drugs":[179],"this":[186],"hypothesis":[187],"concordant":[189],"literature":[192],"on":[193],"drugs.":[199],"Discussion.":[200],"although":[205],"there":[206],"exist":[207],"distinct":[208],"processes":[210],"affected":[213],"network-based":[217],"annotations":[218],"capture":[220],"similarity":[230],"substantial":[233],"similar":[237],"Conclusion.":[240],"These":[241],"support":[243],"ethnicity":[247],"needs":[248],"be":[250],"taken":[251],"into":[252],"account":[253],"making":[255],"personalized":[256],"treatment":[257],"decisions":[258],"for":[259],"complex":[260],"diseases.":[261]},"counts_by_year":[{"year":2019,"cited_by_count":1}],"updated_date":"2026-06-11T09:08:48.828518","created_date":"2025-10-10T00:00:00"}
