{"id":"https://openalex.org/W13505813","doi":null,"title":"Detection and characterization of genomic regions associated to Dilated Cardiomyopathy in Great Danes","display_name":"Detection and characterization of genomic regions associated to Dilated Cardiomyopathy in Great Danes","publication_year":2012,"publication_date":"2012-11-29","ids":{"openalex":"https://openalex.org/W13505813","mag":"13505813"},"language":"en","primary_location":{"id":"pmh:oai:stud.epsilon.slu.se:5101","doi":null,"is_oa":true,"landing_page_url":"https://stud.epsilon.slu.se/5101/","pdf_url":"https://stud.epsilon.slu.se/5101/","source":{"id":"https://openalex.org/S4306401562","display_name":"Epsilon Archive for Student Projects (University of Southampton)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I43439940","host_organization_name":"University of Southampton","host_organization_lineage":["https://openalex.org/I43439940"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"H2"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://stud.epsilon.slu.se/5101/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5001329171","display_name":"Ana Kolicheski","orcid":"https://orcid.org/0000-0002-7084-5119","observed_orcids":["https://orcid.org/0000-0002-7084-5119"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Ana Kolicheski","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-7084-5119","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5001329171"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8428000211715698,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.8428000211715698,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular 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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":0.043800000101327896,"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":0.02800000086426735,"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/canine-dilated-cardiomyopathy","display_name":"canine dilated cardiomyopathy","score":0.9869999885559082},{"id":"https://openalex.org/keywords/great-dane","display_name":"Great Dane","score":0.9929999709129333},{"id":"https://openalex.org/keywords/genetic-risk-factors","display_name":"genetic risk factors","score":0.7639999985694885},{"id":"https://openalex.org/keywords/genome-wide-association-study","display_name":"genome-wide association study","score":0.7580000162124634},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8420000076293945},{"id":"https://openalex.org/keywords/notch-signaling","display_name":"Notch signaling","score":0.6800000071525574},{"id":"https://openalex.org/keywords/candidate-genomic-regions","display_name":"candidate genomic regions","score":0.4050000011920929},{"id":"https://openalex.org/keywords/nonsynonymous-mutations","display_name":"non-synonymous mutations","score":0.6679999828338623},{"id":"https://openalex.org/keywords/population-stratification","display_name":"population stratification","score":0.5460000038146973},{"id":"https://openalex.org/keywords/disease-genes","display_name":"disease-associated genes","score":0.3529999852180481}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.7670044302940369},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.6686615943908691},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.6482149958610535},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5995540618896484},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5567891001701355},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.47331273555755615},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4616599678993225},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.44352370500564575},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.4402908682823181},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32680416107177734},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2937440872192383},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2695568799972534},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.20871523022651672},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.14683964848518372},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.07355257868766785},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:stud.epsilon.slu.se:5101","doi":null,"is_oa":true,"landing_page_url":"https://stud.epsilon.slu.se/5101/","pdf_url":"https://stud.epsilon.slu.se/5101/","source":{"id":"https://openalex.org/S4306401562","display_name":"Epsilon Archive for Student Projects (University of Southampton)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I43439940","host_organization_name":"University of Southampton","host_organization_lineage":["https://openalex.org/I43439940"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"H2"},{"id":"mag:13505813","doi":null,"is_oa":false,"landing_page_url":"https://stud.epsilon.slu.se/5101/11/kolicheski_a_121205.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:stud.epsilon.slu.se:5101","doi":null,"is_oa":true,"landing_page_url":"https://stud.epsilon.slu.se/5101/","pdf_url":"https://stud.epsilon.slu.se/5101/","source":{"id":"https://openalex.org/S4306401562","display_name":"Epsilon Archive for Student Projects (University of Southampton)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I43439940","host_organization_name":"University of Southampton","host_organization_lineage":["https://openalex.org/I43439940"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"H2"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W13505813.pdf","grobid_xml":"https://content.openalex.org/works/W13505813.grobid-xml"},"referenced_works_count":30,"referenced_works":["https://openalex.org/W65537950","https://openalex.org/W1578735521","https://openalex.org/W1822695366","https://openalex.org/W1965944445","https://openalex.org/W1967363345","https://openalex.org/W1970783280","https://openalex.org/W1973856678","https://openalex.org/W1990534862","https://openalex.org/W2002538969","https://openalex.org/W2011667222","https://openalex.org/W2015523078","https://openalex.org/W2019559291","https://openalex.org/W2032096967","https://openalex.org/W2052749020","https://openalex.org/W2054208405","https://openalex.org/W2063575312","https://openalex.org/W2080904597","https://openalex.org/W2083203368","https://openalex.org/W2086753644","https://openalex.org/W2090419117","https://openalex.org/W2117131162","https://openalex.org/W2124460010","https://openalex.org/W2135130123","https://openalex.org/W2139455342","https://openalex.org/W2140249224","https://openalex.org/W2149892026","https://openalex.org/W2155078868","https://openalex.org/W2158620919","https://openalex.org/W2160523141","https://openalex.org/W2166797873"],"related_works":["https://openalex.org/W4404187109","https://openalex.org/W6948003050","https://openalex.org/W2249772170","https://openalex.org/W6939442989","https://openalex.org/W2618519374","https://openalex.org/W2076376576","https://openalex.org/W2118130932","https://openalex.org/W2092103693","https://openalex.org/W2166797873","https://openalex.org/W4389958142"],"abstract_inverted_index":{"Canine":[0],"dilated":[1],"cardiomyopathy":[2],"(DCM)":[3],"is":[4,236,373,388],"a":[5,38,111,146,212,246,328,335,346],"lethal":[6],"myocardial":[7],"disease":[8,49],"prevalent":[9],"in":[10,45,56,95,145,282,294,309,319,327,342,348,359,411],"large":[11],"and":[12,34,51,65,116,131,154,174,211,221,233,245,299,302,326,369,422],"giant-sized":[13],"dog":[14],"breeds,":[15],"including":[16],"the":[17,57,60,102,165,191,222,250,258,283,303,310,320,339,364,370,386,428],"Great":[18,150,243],"Dane":[19],"(GD).":[20],"The":[21,138,157,167,261,279,357],"goal":[22],"of":[23,41,62,72,78,101,114,231,241,249,366],"this":[24,108,349],"study":[25,82,109],"was":[26,162,305,361],"to":[27,35,37,47,97,107,182,228,256,275,330,382,413],"identify":[28,98],"genetic":[29,43],"risk":[30,52],"factors":[31],"for":[32,70,160,164,263,307,334,338],"DCM":[33,42,429],"contribute":[36,69],"future":[39,73],"development":[40,71],"markers":[44,92],"order":[46,96,412],"facilitate":[48],"diagnosis":[50],"allele":[53,372],"detection.":[54],"Furthermore,":[55],"long":[58],"term,":[59],"identification":[61],"novel":[63,277,416],"genes":[64,325,421],"pathways":[66],"that":[67,238,425],"may":[68,270],"therapies.":[74],"Two":[75,184],"different":[76,112,143],"approaches":[77],"genome":[79],"wide":[80],"association":[81],"(GWAS)":[83],"using":[84,288],"data":[85,253,304],"from":[86],"~170,000":[87],"Single":[88],"Nucleotide":[89],"Polymorphism":[90],"(SNP)":[91],"were":[93,286,317],"conducted":[94],"disease-associated":[99],"regions":[100,124,135,185,280,404],"genome.":[103],"A":[104],"previous":[105],"GWAS":[106,140,285],"used":[110,163],"cohort":[113],"individuals":[115,368],"analytical":[117],"software.":[118],"This":[119],"methodology":[120],"detected":[121,281,318],"six":[122],"candidate":[123,314],"on":[125,136,186,377,402,405],"chromosomes":[126],"3,":[127],"16,":[128],"19,":[129],"29":[130],"30":[132],"(two":[133],"associated":[134,353],"chr19).":[137],"current":[139,311],"tested":[141],"nine":[142],"models":[144],"dataset":[147],"containing":[148,199,206],"127":[149],"Danes":[151,244],"(62":[152],"cases":[153,232,379],"65":[155],"controls).":[156],"GenABEL":[158],"package":[159],"R":[161],"analysis.":[166],"elected":[168],"model":[169],"3":[170],"included":[171],"population":[172],"stratification":[173],"had":[175],"an":[176,272],"inflation":[177],"factor":[178],"lambda":[179],"(\u03bb)":[180],"equal":[181],"1.04.":[183],"chromosome":[187],"19":[188],"overlapped":[189],"with":[190,354],"first":[192],"GWAS.":[193],"Region":[194,202],"1:":[195],"between":[196,204],"23-23.3":[197],"Mb":[198],"two":[200,300],"rRNAs;":[201],"2:":[203],"44-46Mb":[205],"three":[207],"genes:":[208],"SPOPL,":[209],"NXPH2":[210],"LRP1B":[213],"orthologue.":[214],"No":[215],"marker":[216],"reached":[217],"Bonferroni":[218],"statistical":[219,259],"significance,":[220],"low":[223],"power":[224],"could":[225,426],"be":[226,271,408],"due":[227],"insufficient":[229],"number":[230,419],"controls.":[234],"It":[235],"suggested":[237],"SNP":[239,347],"typing":[240],"extra":[242],"better":[247],"use":[248],"available":[251,306],"phenotype":[252],"would":[254],"help":[255],"improve":[257],"power.":[260],"correction":[262],"complex":[264],"gene-gene":[265],"interactions":[266],"such":[267],"as":[268,380],"epistasis":[269],"interesting":[273],"approach":[274],"detect":[276,414],"candidates.":[278],"precedent":[284],"re-sequenced":[287],"Illumina":[289],"Next":[290],"generation":[291],"sequencing":[292],"technology":[293],"five":[295],"animals":[296],"(three":[297],"controls":[298],"cases),":[301],"analysis":[308,401],"study.":[312],"Six":[313],"non-synonymous":[315],"mutations":[316],"DMXL2,":[321],"TMC3,":[322],"ZMAT4,":[323],"MESDC2":[324],"paralogue":[329],"RPL10A.":[331],"DMXL2":[332,360],"encodes":[333],"protein":[336],"important":[337],"Notch":[340],"pathway":[341],"mammals.":[343],"In":[344],"humans,":[345],"gene":[350],"has":[351],"been":[352],"ischemic":[355],"stroke.":[356],"polymorphism":[358],"confirmed":[362],"through":[363],"genotyping":[365],"319":[367],"non-reference":[371],"slightly":[374],"more":[375],"frequent":[376],"verified":[378,383],"opposed":[381],"controls,":[384],"however,":[385],"difference":[387],"not":[389],"statistically":[390],"significant":[391],"(t-test":[392],"p-value=":[393,398],"0.366;":[394],"2X3":[395],"Fisher":[396],"test":[397],"0.258).":[399],"Further":[400],"both":[403],"chr19":[406],"should":[407],"carried":[409],"out":[410],"possible":[415],"mutations,":[417],"copy":[418],"variants,":[420],"regulatory":[423],"elements":[424],"influence":[427],"phenotype.":[430]},"counts_by_year":[],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2016-06-24T00:00:00"}
