{"id":"https://openalex.org/W2026730067","doi":"https://doi.org/10.1109/icinfa.2014.6932796","title":"Genome wide association studies based on integrated dataset — Hirschsprung disease as a model","display_name":"Genome wide association studies based on integrated dataset — Hirschsprung disease as a model","publication_year":2014,"publication_date":"2014-07-01","ids":{"openalex":"https://openalex.org/W2026730067","doi":"https://doi.org/10.1109/icinfa.2014.6932796","mag":"2026730067"},"language":"en","primary_location":{"id":"doi:10.1109/icinfa.2014.6932796","is_oa":false,"landing_page_url":"https://doi.org/10.1109/icinfa.2014.6932796","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2014 IEEE International Conference on Information and Automation (ICIA)","raw_type":"proceedings-article"},"type":"conference-paper","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/A5100411532","display_name":"Xiao Wang","orcid":"https://orcid.org/0000-0003-4435-7098"},"institutions":[{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao Wang","raw_affiliation_strings":["System Engineering Institution, Xi'an Jiaotong Unviersity, Xi'an, Shaanxi Province, China","System Engineering Institution, Xi'an Jiaotong Unviersity Xi'an, Shaanxi Province, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"System Engineering Institution, Xi'an Jiaotong Unviersity, Xi'an, Shaanxi Province, China","institution_ids":["https://openalex.org/I87445476"]},{"raw_affiliation_string":"System Engineering Institution, Xi'an Jiaotong Unviersity Xi'an, Shaanxi Province, China","institution_ids":["https://openalex.org/I87445476"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101905916","display_name":"Qinke Peng","orcid":"https://orcid.org/0000-0002-2697-1038"},"institutions":[{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qinke Peng","raw_affiliation_strings":["System Engineering Institution, Xi'an Jiaotong Unviersity, Xi'an, Shaanxi Province, China","System Engineering Institution, Xi'an Jiaotong Unviersity Xi'an, Shaanxi Province, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"System Engineering Institution, Xi'an Jiaotong Unviersity, Xi'an, Shaanxi Province, China","institution_ids":["https://openalex.org/I87445476"]},{"raw_affiliation_string":"System Engineering Institution, Xi'an Jiaotong Unviersity Xi'an, Shaanxi Province, China","institution_ids":["https://openalex.org/I87445476"]}]},{"author_position":"last","author":{"id":null,"display_name":"Xiao Chen","orcid":null},"institutions":[{"id":"https://openalex.org/I87445476","display_name":"Xi'an Jiaotong University","ror":"https://ror.org/017zhmm22","country_code":"CN","type":"education","lineage":["https://openalex.org/I87445476"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiao Chen","raw_affiliation_strings":["System Engineering Institution, Xi'an Jiaotong Unviersity, Xi'an, Shaanxi Province, China","System Engineering Institution, Xi'an Jiaotong Unviersity Xi'an, Shaanxi Province, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"System Engineering Institution, Xi'an Jiaotong Unviersity, Xi'an, Shaanxi Province, China","institution_ids":["https://openalex.org/I87445476"]},{"raw_affiliation_string":"System Engineering Institution, Xi'an Jiaotong Unviersity Xi'an, Shaanxi Province, China","institution_ids":["https://openalex.org/I87445476"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I87445476"],"apc_list":null,"apc_paid":null,"fwci":2.2793,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.86341279,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":94},"biblio":{"volume":"43","issue":null,"first_page":"999","last_page":"1003"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.9994000196456909,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.9994000196456909,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10515","display_name":"Cancer-related molecular mechanisms research","score":0.9290000200271606,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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":0.6849552989006042},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.6788142919540405},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.6740092039108276},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.6740007996559143},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6142276525497437},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.5104295611381531},{"id":"https://openalex.org/keywords/matching","display_name":"Matching (statistics)","score":0.4907454252243042},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.47115838527679443},{"id":"https://openalex.org/keywords/complex-disease","display_name":"Complex disease","score":0.4167824983596802},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.3818814158439636},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.35815727710723877},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.21064388751983643},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.18120473623275757},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.15282681584358215},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.14349979162216187},{"id":"https://openalex.org/keywords/statistics","display_name":"Statistics","score":0.12268528342247009},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.11079642176628113},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.08161050081253052}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.6849552989006042},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6788142919540405},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.6740092039108276},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.6740007996559143},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6142276525497437},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.5104295611381531},{"id":"https://openalex.org/C165064840","wikidata":"https://www.wikidata.org/wiki/Q1321061","display_name":"Matching (statistics)","level":2,"score":0.4907454252243042},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.47115838527679443},{"id":"https://openalex.org/C3018605307","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Complex disease","level":3,"score":0.4167824983596802},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3818814158439636},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.35815727710723877},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.21064388751983643},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.18120473623275757},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.15282681584358215},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14349979162216187},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.12268528342247009},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11079642176628113},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.08161050081253052},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1109/icinfa.2014.6932796","is_oa":false,"landing_page_url":"https://doi.org/10.1109/icinfa.2014.6932796","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"2014 IEEE International Conference on Information and Automation (ICIA)","raw_type":"proceedings-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Partnerships for the goals","score":0.49000000953674316,"id":"https://metadata.un.org/sdg/17"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1969902468","https://openalex.org/W2024485499","https://openalex.org/W2036555109","https://openalex.org/W2041249087","https://openalex.org/W2051313028","https://openalex.org/W2067847863","https://openalex.org/W2117306632","https://openalex.org/W2120372853","https://openalex.org/W2120491838","https://openalex.org/W2152401289","https://openalex.org/W2153739048","https://openalex.org/W2158113016","https://openalex.org/W2163828550","https://openalex.org/W2593086047","https://openalex.org/W2911964244"],"related_works":["https://openalex.org/W1971424770","https://openalex.org/W2111842731","https://openalex.org/W2066467839","https://openalex.org/W2594299395","https://openalex.org/W2771541573","https://openalex.org/W2765794416","https://openalex.org/W1992310781","https://openalex.org/W2887190046","https://openalex.org/W4247775625","https://openalex.org/W2151668213"],"abstract_inverted_index":{"Finding":[0],"associated":[1],"Single":[2],"nucleotide":[3],"polymorphism":[4],"(SNP)":[5],"for":[6],"complex":[7],"diseases":[8],"has":[9],"been":[10],"the":[11,56,97,108,121,128],"goal":[12],"of":[13,34,42,50],"many":[14],"genetic":[15],"studies.":[16],"By":[17],"screening":[18],"candidate":[19],"SNPs":[20,100],"and":[21,63,82,104,126],"by":[22,79],"performing":[23],"genome":[24],"wide":[25],"association":[26],"studies":[27,52,130],"(GWAS),":[28],"we":[29,73,90,134],"can":[30],"get":[31],"risk":[32],"loci":[33],"specific":[35],"diseases.":[36],"Case-control":[37],"study":[38,142],"is":[39,60,66,147],"a":[40,92],"kind":[41],"important":[43],"method":[44],"in":[45,123],"this":[46,71,88,132],"field.":[47],"However,":[48],"most":[49],"case-control":[51,141],"are":[53],"suffering":[54],"from":[55,101],"puzzle":[57],"that":[58,136],"sample":[59],"too":[61],"small":[62],"control":[64,81],"data":[65,83,110],"not":[67],"enough.":[68],"To":[69,85],"change":[70],"situation,":[72],"integrate":[74],"three":[75],"SNP":[76],"databases":[77],"together":[78],"quality":[80],"matching.":[84],"deal":[86],"with":[87],"database,":[89],"propose":[91],"new":[93],"pipeline":[94,138],"to":[95,120,139],"find":[96],"disease":[98,115],"related":[99],"different":[102],"race":[103],"dataset.":[105],"We":[106],"take":[107],"real":[109,124],"set":[111],"about":[112,131],"Hirschsprung":[113],"(HSCR)":[114],"as":[116],"an":[117],"example,":[118],"According":[119],"experiment":[122],"dataset":[125,146],"compare":[127],"prior":[129],"disease,":[133],"prove":[135],"our":[137],"do":[140],"based":[143],"on":[144],"integrated":[145],"useful.":[148]},"counts_by_year":[{"year":2016,"cited_by_count":1}],"updated_date":"2026-07-29T14:22:42.915294","created_date":"2025-10-10T00:00:00"}