{"id":"https://openalex.org/W1979748567","doi":"https://doi.org/10.1093/bioinformatics/bth907","title":"High density linkage disequilibrium mapping using models of haplotype block variation","display_name":"High density linkage disequilibrium mapping using models of haplotype block variation","publication_year":2004,"publication_date":"2004-07-19","ids":{"openalex":"https://openalex.org/W1979748567","doi":"https://doi.org/10.1093/bioinformatics/bth907","mag":"1979748567","pmid":"https://pubmed.ncbi.nlm.nih.gov/15262792"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/bth907","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bth907","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"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/A5055485161","display_name":"Gideon Greenspan","orcid":null},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"G. Greenspan","raw_affiliation_strings":["Computer Science Department, Technion, Haifa 32000, Israel","Computer Science Department, Technion,#N#Haifa 32000, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computer Science Department, Technion, Haifa 32000, Israel","institution_ids":["https://openalex.org/I174306211"]},{"raw_affiliation_string":"Computer Science Department, Technion,#N#Haifa 32000, Israel","institution_ids":["https://openalex.org/I174306211"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000414827","display_name":"Dan Geiger","orcid":"https://orcid.org/0000-0001-9988-0199"},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"D. Geiger","raw_affiliation_strings":["Computer Science Department, Technion, Haifa 32000, Israel","Computer Science Department, Technion,#N#Haifa 32000, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computer Science Department, Technion, Haifa 32000, Israel","institution_ids":["https://openalex.org/I174306211"]},{"raw_affiliation_string":"Computer Science Department, Technion,#N#Haifa 32000, Israel","institution_ids":["https://openalex.org/I174306211"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5055485161"],"corresponding_institution_ids":["https://openalex.org/I174306211"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":null,"fwci":3.7792,"has_fulltext":false,"cited_by_count":48,"citation_normalized_percentile":{"value":0.93170948,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"20","issue":"suppl_1","first_page":"i137","last_page":"i144"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9218999743461609,"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":0.9218999743461609,"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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":0.026599999517202377,"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":0.01269999984651804,"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":0.8489127159118652},{"id":"https://openalex.org/keywords/haplotype","display_name":"Haplotype","score":0.7966108322143555},{"id":"https://openalex.org/keywords/tag-snp","display_name":"Tag SNP","score":0.684280514717102},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphism","display_name":"Single-nucleotide polymorphism","score":0.6345999240875244},{"id":"https://openalex.org/keywords/linkage","display_name":"Linkage (software)","score":0.5273633599281311},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.5191687345504761},{"id":"https://openalex.org/keywords/haplotype-estimation","display_name":"Haplotype estimation","score":0.5007071495056152},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.47603657841682434},{"id":"https://openalex.org/keywords/association-mapping","display_name":"Association mapping","score":0.4696494936943054},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.448372483253479},{"id":"https://openalex.org/keywords/genetic-association","display_name":"Genetic association","score":0.44687044620513916},{"id":"https://openalex.org/keywords/block","display_name":"Block (permutation group theory)","score":0.4397788345813751},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.42957425117492676},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.42080527544021606},{"id":"https://openalex.org/keywords/genotype","display_name":"Genotype","score":0.3361356854438782},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.1507214903831482},{"id":"https://openalex.org/keywords/mathematics","display_name":"Mathematics","score":0.1077277660369873}],"concepts":[{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.8489127159118652},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.7966108322143555},{"id":"https://openalex.org/C55060382","wikidata":"https://www.wikidata.org/wiki/Q7675093","display_name":"Tag SNP","level":5,"score":0.684280514717102},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6345999240875244},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.5273633599281311},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.5191687345504761},{"id":"https://openalex.org/C44432683","wikidata":"https://www.wikidata.org/wiki/Q17145705","display_name":"Haplotype estimation","level":5,"score":0.5007071495056152},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47603657841682434},{"id":"https://openalex.org/C134443026","wikidata":"https://www.wikidata.org/wiki/Q4809584","display_name":"Association mapping","level":5,"score":0.4696494936943054},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.448372483253479},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.44687044620513916},{"id":"https://openalex.org/C2777210771","wikidata":"https://www.wikidata.org/wiki/Q4927124","display_name":"Block (permutation group theory)","level":2,"score":0.4397788345813751},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.42957425117492676},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.42080527544021606},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3361356854438782},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1507214903831482},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.1077277660369873},{"id":"https://openalex.org/C2524010","wikidata":"https://www.wikidata.org/wiki/Q8087","display_name":"Geometry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001185","descriptor_name":"Artificial Intelligence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001499","descriptor_name":"Bayes Theorem","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015233","descriptor_name":"Models, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/bioinformatics/bth907","is_oa":false,"landing_page_url":"https://doi.org/10.1093/bioinformatics/bth907","pdf_url":null,"source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:15262792","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15262792","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics (Oxford, England)","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W205484573","https://openalex.org/W1508985588","https://openalex.org/W1522239197","https://openalex.org/W1545450626","https://openalex.org/W1551600243","https://openalex.org/W1730861791","https://openalex.org/W1973658489","https://openalex.org/W1973769499","https://openalex.org/W1978136801","https://openalex.org/W1979437989","https://openalex.org/W1985849948","https://openalex.org/W2007781696","https://openalex.org/W2012003805","https://openalex.org/W2019854250","https://openalex.org/W2037454239","https://openalex.org/W2049414355","https://openalex.org/W2054658115","https://openalex.org/W2089718377","https://openalex.org/W2106596127","https://openalex.org/W2126384007","https://openalex.org/W2132434674","https://openalex.org/W2133272121","https://openalex.org/W2135732313","https://openalex.org/W2136886129","https://openalex.org/W2141876475","https://openalex.org/W2152664025","https://openalex.org/W2156341632","https://openalex.org/W2166969139","https://openalex.org/W2171265988","https://openalex.org/W2180470233","https://openalex.org/W2911823491"],"related_works":["https://openalex.org/W1966708416","https://openalex.org/W2019989714","https://openalex.org/W2071146638","https://openalex.org/W2046171760","https://openalex.org/W2410452464","https://openalex.org/W2162024045","https://openalex.org/W4214574623","https://openalex.org/W1524575989","https://openalex.org/W2026736483","https://openalex.org/W2068135230"],"abstract_inverted_index":{"MOTIVATION:":[0],"The":[1,25],"presence":[2],"of":[3,5,31,39,59,89,96,120],"millions":[4],"single":[6],"nucleotide":[7],"polymorphisms":[8],"(SNPs)":[9],"in":[10,17,52],"the":[11,37,49,55,118,133],"human":[12,32],"genome":[13],"has":[14],"spurred":[15],"interest":[16],"genetic":[18,100],"mapping":[19,46,73,137],"methods":[20],"based":[21,84,139],"on":[22,57,85,108,140],"linkage":[23,71],"disequilibrium.":[24],"recently":[26],"discovered":[27],"haplotype":[28,77,90],"block":[29,91],"structure":[30],"variation":[33],"promises":[34],"to":[35,116],"improve":[36],"effectiveness":[38],"these":[40,157],"methods.":[41],"A":[42],"key":[43],"difficulty":[44],"for":[45,69,165,185],"techniques":[47],"is":[48,83],"cost":[50],"involved":[51],"separately":[53],"identifying":[54],"haplotypes":[56],"each":[58],"an":[60,121],"individual's":[61],"chromosomes.":[62],"RESULTS:":[63],"We":[64,104,131,150],"present":[65],"a":[66,86,136,146,163],"new":[67],"approach":[68],"performing":[70],"disequilibrium":[72],"using":[74],"high":[75,112],"density":[76,113],"or":[78],"genotype":[79,176],"data.":[80],"Our":[81],"method":[82,138],"statistical":[87],"model":[88],"variation,":[92],"which":[93,123],"takes":[94],"account":[95],"recombination":[97],"hotspots,":[98],"bottlenecks,":[99],"drift":[101],"and":[102,126,167,178,190],"mutation.":[103],"test":[105],"our":[106,153],"technique":[107],"two":[109],"empirically":[110],"determined":[111],"datasets,":[114],"attempting":[115],"recover":[117],"location":[119],"SNP":[122],"was":[124],"hidden":[125],"converted":[127],"into":[128],"phenotype":[129],"information.":[130],"compare":[132],"results":[134],"against":[135],"individual":[141],"SNPs":[142],"as":[143,145,162,193,195],"well":[144,194],"competing":[147],"haplotype-based":[148],"approach.":[149],"show":[151],"that":[152,168],"strategy":[154],"significantly":[155],"outperforms":[156],"other":[158],"approaches":[159],"when":[160],"used":[161],"guide":[164],"resequencing":[166],"it":[169],"can":[170],"also":[171],"deal":[172],"with":[173],"both":[174],"unphased":[175],"data":[177],"low":[179],"penetrance":[180],"diseases.":[181],"AVAILABILITY:":[182],"HaploBlock":[183],"executables":[184],"Linux,":[186],"Mac":[187],"OS":[188],"X":[189],"Sun":[191],"OS,":[192],"user":[196],"documentation,":[197],"are":[198],"available":[199],"online":[200],"at":[201],"http://bioinfo.cs.technion.ac.il/haploblock/":[202]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1}],"updated_date":"2026-06-16T07:32:37.131356","created_date":"2025-10-10T00:00:00"}