{"id":"https://openalex.org/W1479731530","doi":"https://doi.org/10.1109/csb.2003.1227368","title":"SNP analysis system for detecting complex disease associated sites","display_name":"SNP analysis system for detecting complex disease associated sites","publication_year":2004,"publication_date":"2004-03-30","ids":{"openalex":"https://openalex.org/W1479731530","doi":"https://doi.org/10.1109/csb.2003.1227368","mag":"1479731530"},"language":"en","primary_location":{"id":"doi:10.1109/csb.2003.1227368","is_oa":false,"landing_page_url":"https://doi.org/10.1109/csb.2003.1227368","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003","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/A5029782760","display_name":"Yoshihito Higashi","orcid":"https://orcid.org/0000-0002-9738-4244"},"institutions":[{"id":"https://openalex.org/I2251713219","display_name":"NTT (Japan)","ror":"https://ror.org/00berct97","country_code":"JP","type":"company","lineage":["https://openalex.org/I2251713219"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Y. Higashi","raw_affiliation_strings":["NTT Data Company Limited, Tokyo, Japan","NTT Data Co. Ltd., Tokyo, Japan"],"affiliations":[{"raw_affiliation_string":"NTT Data Company Limited, Tokyo, Japan","institution_ids":["https://openalex.org/I2251713219"]},{"raw_affiliation_string":"NTT Data Co. Ltd., Tokyo, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111913358","display_name":"H. Higuchi","orcid":null},"institutions":[{"id":"https://openalex.org/I2251713219","display_name":"NTT (Japan)","ror":"https://ror.org/00berct97","country_code":"JP","type":"company","lineage":["https://openalex.org/I2251713219"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"H. Higuchi","raw_affiliation_strings":["NTT Data Company Limited, Tokyo, Japan","NTT Data Co. Ltd., Tokyo, Japan"],"affiliations":[{"raw_affiliation_string":"NTT Data Company Limited, Tokyo, Japan","institution_ids":["https://openalex.org/I2251713219"]},{"raw_affiliation_string":"NTT Data Co. Ltd., Tokyo, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102728768","display_name":"Takashi Kido","orcid":"https://orcid.org/0000-0001-8338-0608"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Kido","raw_affiliation_strings":["HuBit Genomix, Inc., Tokyo, Japan","HuBit Genomix, Inc"],"affiliations":[{"raw_affiliation_string":"HuBit Genomix, Inc., Tokyo, Japan","institution_ids":[]},{"raw_affiliation_string":"HuBit Genomix, Inc","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021902765","display_name":"Hiroto Matsumine","orcid":null},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Matsumine","raw_affiliation_strings":["HuBit Genomix, Inc., Tokyo, Japan","HuBit Genomix, Inc"],"affiliations":[{"raw_affiliation_string":"HuBit Genomix, Inc., Tokyo, Japan","institution_ids":[]},{"raw_affiliation_string":"HuBit Genomix, Inc","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080592581","display_name":"Masanori Baba","orcid":"https://orcid.org/0000-0002-6109-5248"},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Baba","raw_affiliation_strings":["HuBit Genomix, Inc., Tokyo, Japan","HuBit Genomix, Inc"],"affiliations":[{"raw_affiliation_string":"HuBit Genomix, Inc., Tokyo, Japan","institution_ids":[]},{"raw_affiliation_string":"HuBit Genomix, Inc","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072547705","display_name":"T. Morimoto","orcid":"https://orcid.org/0000-0002-7955-6436"},"institutions":[{"id":"https://openalex.org/I2251713219","display_name":"NTT (Japan)","ror":"https://ror.org/00berct97","country_code":"JP","type":"company","lineage":["https://openalex.org/I2251713219"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"T. Morimoto","raw_affiliation_strings":["NTT Data Company Limited, Tokyo, Japan","NTT Data Co. Ltd"],"affiliations":[{"raw_affiliation_string":"NTT Data Company Limited, Tokyo, Japan","institution_ids":["https://openalex.org/I2251713219"]},{"raw_affiliation_string":"NTT Data Co. Ltd","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087785825","display_name":"Mayu Muramatsu","orcid":"https://orcid.org/0000-0002-6487-0457"},"institutions":[{"id":"https://openalex.org/I4210129787","display_name":"Genomix Biotech (India)","ror":"https://ror.org/03q5zq793","country_code":"IN","type":"company","lineage":["https://openalex.org/I4210129787"]},{"id":"https://openalex.org/I125602781","display_name":"Tokyo Medical and Dental University","ror":"https://ror.org/051k3eh31","country_code":"JP","type":"education","lineage":["https://openalex.org/I125602781"]}],"countries":["IN","JP"],"is_corresponding":false,"raw_author_name":"M. Muramatsu","raw_affiliation_strings":["School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan","HuBit Genomix, Inc.; Tokyo Medical Dental University"],"affiliations":[{"raw_affiliation_string":"School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan","institution_ids":["https://openalex.org/I125602781"]},{"raw_affiliation_string":"HuBit Genomix, Inc.; Tokyo Medical Dental University","institution_ids":["https://openalex.org/I4210129787"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5029782760"],"corresponding_institution_ids":["https://openalex.org/I2251713219"],"apc_list":null,"apc_paid":null,"fwci":1.3199,"has_fulltext":false,"cited_by_count":6,"citation_normalized_percentile":{"value":0.81598495,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"7","issue":null,"first_page":"450","last_page":"451"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9937000274658203,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10885","display_name":"Gene expression and cancer classification","score":0.9884999990463257,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9873999953269958,"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/linkage-disequilibrium","display_name":"Linkage disequilibrium","score":0.7951276302337646},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.6733389496803284},{"id":"https://openalex.org/keywords/visualization","display_name":"Visualization","score":0.6158669590950012},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.6066131591796875},{"id":"https://openalex.org/keywords/tag-snp","display_name":"Tag SNP","score":0.572787880897522},{"id":"https://openalex.org/keywords/pipeline","display_name":"Pipeline (software)","score":0.5604885220527649},{"id":"https://openalex.org/keywords/snp","display_name":"SNP","score":0.4993429183959961},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.46888065338134766},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.45453765988349915},{"id":"https://openalex.org/keywords/data-visualization","display_name":"Data visualization","score":0.4413444995880127},{"id":"https://openalex.org/keywords/disequilibrium","display_name":"Disequilibrium","score":0.43078869581222534},{"id":"https://openalex.org/keywords/linkage","display_name":"Linkage (software)","score":0.4278094172477722},{"id":"https://openalex.org/keywords/function","display_name":"Function (biology)","score":0.418459951877594},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.40673381090164185},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.2356385588645935},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.2319422960281372},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.11941778659820557},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.09905281662940979},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.09644955396652222},{"id":"https://openalex.org/keywords/operating-system","display_name":"Operating system","score":0.07756102085113525}],"concepts":[{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.7951276302337646},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.6733389496803284},{"id":"https://openalex.org/C36464697","wikidata":"https://www.wikidata.org/wiki/Q451553","display_name":"Visualization","level":2,"score":0.6158669590950012},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6066131591796875},{"id":"https://openalex.org/C55060382","wikidata":"https://www.wikidata.org/wiki/Q7675093","display_name":"Tag SNP","level":5,"score":0.572787880897522},{"id":"https://openalex.org/C43521106","wikidata":"https://www.wikidata.org/wiki/Q2165493","display_name":"Pipeline (software)","level":2,"score":0.5604885220527649},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4993429183959961},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.46888065338134766},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.45453765988349915},{"id":"https://openalex.org/C172367668","wikidata":"https://www.wikidata.org/wiki/Q6504956","display_name":"Data visualization","level":3,"score":0.4413444995880127},{"id":"https://openalex.org/C2778146401","wikidata":"https://www.wikidata.org/wiki/Q10916362","display_name":"Disequilibrium","level":2,"score":0.43078869581222534},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.4278094172477722},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.418459951877594},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.40673381090164185},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2356385588645935},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2319422960281372},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.11941778659820557},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.09905281662940979},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09644955396652222},{"id":"https://openalex.org/C111919701","wikidata":"https://www.wikidata.org/wiki/Q9135","display_name":"Operating system","level":1,"score":0.07756102085113525},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1109/csb.2003.1227368","is_oa":false,"landing_page_url":"https://doi.org/10.1109/csb.2003.1227368","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Computational Systems Bioinformatics. CSB2003. Proceedings of the 2003 IEEE Bioinformatics Conference. CSB2003","raw_type":"proceedings-article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.135.6742","is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.135.6742","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://csdl.computer.org/comp/proceedings/csb/2003/2000/00/20000450.pdf","raw_type":"text"}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1891283710","https://openalex.org/W1964901903","https://openalex.org/W1969697265","https://openalex.org/W2032788156","https://openalex.org/W2069769149","https://openalex.org/W2109347434","https://openalex.org/W2110755408","https://openalex.org/W2157080296","https://openalex.org/W2157276565","https://openalex.org/W2162930383","https://openalex.org/W4323053695","https://openalex.org/W6639337962","https://openalex.org/W6676200504"],"related_works":["https://openalex.org/W2069589734","https://openalex.org/W2107789262","https://openalex.org/W1504783926","https://openalex.org/W2319637299","https://openalex.org/W2187968078","https://openalex.org/W2079824395","https://openalex.org/W2367827590","https://openalex.org/W1523912222","https://openalex.org/W1480804049","https://openalex.org/W1965385715"],"abstract_inverted_index":{"We":[0],"developed":[1],"a":[2,34,118],"system":[3,22,75,93,115,157],"that":[4,12],"supports":[5],"disease":[6],"association":[7,60],"studies":[8],"to":[9,24,40,55,99,132],"detect":[10],"genes":[11],"may":[13],"cause":[14],"complex":[15,167],"diseases.":[16,168],"The":[17,113,122,155],"main":[18,123,134],"function":[19,38],"of":[20,28,72,90,111,152,166],"the":[21,26,73,81,88,92,105,126,137,144,153,163],"is":[23,39,96,130],"examine":[25],"possibility":[27],"each":[29],"polymorphism":[30],"being":[31],"associated":[32],"with":[33,76],"disease.":[35],"Another":[36],"important":[37],"perform":[41],"linkage":[42],"disequilibrium":[43],"analysis":[44,70,139],"and":[45,84,129,148],"combine":[46],"SNPs":[47,91],"(single":[48],"nucleotide":[49],"polymorphisms)":[50],"together":[51],"into":[52],"LDblocks":[53],"(linkage-disequilibrium-blocks)":[54],"improve":[56],"statistical":[57],"power":[58],"for":[59,79,162],"study.":[61],"Those":[62],"analyses":[63],"can":[64,94],"be":[65],"efficiently":[66],"performed":[67],"using":[68],"an":[69,150],"pipeline":[71],"new":[74,114,156],"handy":[77],"tools":[78],"eliminating":[80],"inadequate":[82],"data":[83],"so":[85],"on.":[86],"Consequently,":[87],"number":[89],"analyze":[95],"about":[97],"30":[98],"50":[100],"times":[101],"higher":[102],"than":[103],"by":[104],"standard":[106],"manual":[107],"procedures":[108],"per":[109],"unit":[110],"time.":[112],"also":[116],"has":[117],"sophisticated":[119],"visualization":[120],"tool.":[121],"viewer":[124,135],"displays":[125],"genomic":[127],"structure":[128],"linked":[131],"another":[133],"showing":[136],"in-depth":[138],"result.":[140],"These":[141],"viewers":[142],"let":[143],"user":[145],"easily":[146],"check":[147],"make":[149],"interpretation":[151],"results.":[154],"should":[158],"provide":[159],"significant":[160],"assistance":[161],"genome":[164],"research":[165]},"counts_by_year":[],"updated_date":"2026-04-05T17:49:38.594831","created_date":"2025-10-10T00:00:00"}
