{"id":"https://openalex.org/W357070448","doi":null,"title":"Finding the Missing Heritability: Gene Mapping Strategies for Complex Pedigrees.","display_name":"Finding the Missing Heritability: Gene Mapping Strategies for Complex Pedigrees.","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W357070448","mag":"357070448"},"language":"en","primary_location":{"id":"pmh:oai:deepblue.lib.umich.edu:2027.42/99917","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2027.42/99917","pdf_url":"http://hdl.handle.net/2027.42/99917","source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"volume":null,"type":"dissertation","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://hdl.handle.net/2027.42/99917","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008896113","display_name":"Kaanan P. Shah","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Kaanan P. Shah","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5008896113"],"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9345999956130981,"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":0.9345999956130981,"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":0.051500000059604645,"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":0.006899999920278788,"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/missing-heritability","display_name":"missing heritability","score":0.9990000128746033},{"id":"https://openalex.org/keywords/complex-pedigrees","display_name":"complex pedigrees","score":0.8399999737739563},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.9020000100135803},{"id":"https://openalex.org/keywords/gene-gene-interaction","display_name":"gene-gene interaction","score":0.9340000152587891},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.7269999980926514},{"id":"https://openalex.org/keywords/quantitative-traits","display_name":"quantitative traits","score":0.6079999804496765},{"id":"https://openalex.org/keywords/old-order-amish","display_name":"Old Order Amish","score":0.8510000109672546},{"id":"https://openalex.org/keywords/population-isolates","display_name":"isolated populations","score":0.796999990940094},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.9309999942779541},{"id":"https://openalex.org/keywords/mcmc-convergence","display_name":"MCMC convergence","score":0.7950000166893005},{"id":"https://openalex.org/keywords/lod-score","display_name":"lod score","score":0.8220000267028809},{"id":"https://openalex.org/keywords/heritability-estimation","display_name":"heritability estimation","score":0.8619999885559082},{"id":"https://openalex.org/keywords/narrow-sense-heritability","display_name":"narrow-sense heritability","score":0.7979999780654907},{"id":"https://openalex.org/keywords/polygenic-traits","display_name":"polygenic traits","score":0.7730000019073486},{"id":"https://openalex.org/keywords/structural-variants","display_name":"structural variants","score":0.5440000295639038}],"concepts":[{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.9455127716064453},{"id":"https://openalex.org/C161890455","wikidata":"https://www.wikidata.org/wiki/Q1503548","display_name":"Heritability","level":2,"score":0.6602765321731567},{"id":"https://openalex.org/C144621757","wikidata":"https://www.wikidata.org/wiki/Q3083720","display_name":"Missing heritability problem","level":5,"score":0.6418676972389221},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5060104727745056},{"id":"https://openalex.org/C53553401","wikidata":"https://www.wikidata.org/wiki/Q47307","display_name":"Genealogy","level":1,"score":0.4625702500343323},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45186761021614075},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.399664044380188},{"id":"https://openalex.org/C2522767166","wikidata":"https://www.wikidata.org/wiki/Q2374463","display_name":"Data science","level":1,"score":0.3827439546585083},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3641570508480072},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.36387205123901367},{"id":"https://openalex.org/C78458016","wikidata":"https://www.wikidata.org/wiki/Q840400","display_name":"Evolutionary biology","level":1,"score":0.3615340292453766},{"id":"https://openalex.org/C23123220","wikidata":"https://www.wikidata.org/wiki/Q816826","display_name":"Information retrieval","level":1,"score":0.320844829082489},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.29176005721092224},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.16838806867599487},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.09041601419448853},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.061842113733291626}],"mesh":[],"locations_count":3,"locations":[{"id":"pmh:oai:deepblue.lib.umich.edu:2027.42/99917","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2027.42/99917","pdf_url":"http://hdl.handle.net/2027.42/99917","source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.863.8007","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.863.8007","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"https://deepblue.lib.umich.edu/bitstream/handle/2027.42/99917/kaanan_1.pdf%3Bjsessionid%3DFBA5C66C19F0561014F9FE331D819A20?sequence%3D1","raw_type":"text"},{"id":"mag:357070448","doi":null,"is_oa":false,"landing_page_url":"https://deepblue.lib.umich.edu/handle/2027.42/99917","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:deepblue.lib.umich.edu:2027.42/99917","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2027.42/99917","pdf_url":"http://hdl.handle.net/2027.42/99917","source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Thesis"},"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W357070448.pdf","grobid_xml":"https://content.openalex.org/works/W357070448.grobid-xml"},"referenced_works_count":95,"referenced_works":["https://openalex.org/W1485593740","https://openalex.org/W1515251601","https://openalex.org/W1838763289","https://openalex.org/W1921969326","https://openalex.org/W1952177368","https://openalex.org/W1966315117","https://openalex.org/W1968105228","https://openalex.org/W1969761972","https://openalex.org/W1970964234","https://openalex.org/W1976593262","https://openalex.org/W1979310571","https://openalex.org/W1980991473","https://openalex.org/W1982516282","https://openalex.org/W1983540007","https://openalex.org/W1983665800","https://openalex.org/W1987155068","https://openalex.org/W1987754412","https://openalex.org/W1989539292","https://openalex.org/W1989641751","https://openalex.org/W1991311566","https://openalex.org/W1991897103","https://openalex.org/W1992715357","https://openalex.org/W1993274590","https://openalex.org/W1995729439","https://openalex.org/W1998158007","https://openalex.org/W2004646826","https://openalex.org/W2006093026","https://openalex.org/W2007283913","https://openalex.org/W2007807048","https://openalex.org/W2010767161","https://openalex.org/W2012254260","https://openalex.org/W2015849111","https://openalex.org/W2023231078","https://openalex.org/W2027716419","https://openalex.org/W2028431091","https://openalex.org/W2039480559","https://openalex.org/W2048289494","https://openalex.org/W2049960044","https://openalex.org/W2050821039","https://openalex.org/W2052992240","https://openalex.org/W2053114866","https://openalex.org/W2061100095","https://openalex.org/W2063575312","https://openalex.org/W2064996968","https://openalex.org/W2065566863","https://openalex.org/W2074813927","https://openalex.org/W2075366918","https://openalex.org/W2079501979","https://openalex.org/W2081058274","https://openalex.org/W2083362120","https://openalex.org/W2084417902","https://openalex.org/W2091583677","https://openalex.org/W2092721517","https://openalex.org/W2092922183","https://openalex.org/W2093657574","https://openalex.org/W2096682774","https://openalex.org/W2096916467","https://openalex.org/W2100565782","https://openalex.org/W2106198861","https://openalex.org/W2107755054","https://openalex.org/W2108409892","https://openalex.org/W2110124859","https://openalex.org/W2110808585","https://openalex.org/W2113244577","https://openalex.org/W2113308396","https://openalex.org/W2115335486","https://openalex.org/W2115627866","https://openalex.org/W2115699490","https://openalex.org/W2118269370","https://openalex.org/W2119750704","https://openalex.org/W2121630812","https://openalex.org/W2124586775","https://openalex.org/W2124715997","https://openalex.org/W2124885272","https://openalex.org/W2127194547","https://openalex.org/W2128945836","https://openalex.org/W2129559300","https://openalex.org/W2141088880","https://openalex.org/W2143947347","https://openalex.org/W2147387551","https://openalex.org/W2147479731","https://openalex.org/W2153321463","https://openalex.org/W2153345301","https://openalex.org/W2154238506","https://openalex.org/W2154940301","https://openalex.org/W2155496693","https://openalex.org/W2157308673","https://openalex.org/W2157372280","https://openalex.org/W2161633633","https://openalex.org/W2162265886","https://openalex.org/W2163285329","https://openalex.org/W2170218911","https://openalex.org/W2171777347","https://openalex.org/W2286161527","https://openalex.org/W2414609135"],"related_works":["https://openalex.org/W7028749498","https://openalex.org/W4417165335","https://openalex.org/W4415841364","https://openalex.org/W2924960962","https://openalex.org/W7099576327","https://openalex.org/W2186757509","https://openalex.org/W2083277053","https://openalex.org/W172677671","https://openalex.org/W2125920688","https://openalex.org/W1980991473"],"abstract_inverted_index":{"Geneticists":[0],"have":[1],"been":[2,308],"working":[3],"for":[4,38,140,153,174,217,220,300,328],"decades":[5],"to":[6,22,69,92,123,193,246,279,346],"identify":[7,124],"genetic":[8,24,185],"factors":[9,25],"that":[10,35,81,127,189,238,261,282,317],"underlie":[11],"variation":[12],"in":[13,95,103,196,302,310],"complex":[14,85,112,181],"traits.":[15,255,331],"Yet":[16],"much":[17,248],"of":[18,40,63,84,134,143,168,177,201,215,224,241,249,253,323],"the":[19,29,41,45,61,70,96,141,166,202,250,318,324,343],"variance":[20],"attributed":[21],"additive":[23],"remains":[26],"unaccounted":[27],"for,":[28],"so-called":[30],"\u201cmissing":[31],"heritability":[32,43,72,252,262,281,345],"problem.\u201d":[33],"Factors":[34],"may":[36],"account":[37],"some":[39],"missing":[42,71,251,344],"include":[44],"following:":[46],"rare":[47,64,132,144,239],"variants,":[48,50],"structural":[49],"gene-gene":[51,67,287,347],"interactions,":[52],"and":[53,66,77,183,235,341],"gene-environment":[54],"interactions.":[55,288,348],"In":[56,114,161,256],"this":[57,209,271,296,339],"dissertation,":[58],"I":[59,75,88,117,137,164,187,211,259,273,315],"evaluate":[60,78,165,274],"contribution":[62],"variants":[65,133,145,240],"interactions":[68],"problem.":[73],"Specifically,":[74],"develop":[76],"research":[79],"strategies":[80,91],"take":[82],"advantage":[83],"pedigree":[86],"information.":[87],"apply":[89],"these":[90,254],"quantitative":[93,125,178],"traits":[94,126,179],"Old":[97],"Order":[98],"Amish,":[99],"a":[100,110,119,147,155,222,275],"population":[101,303],"isolate":[102],"which":[104,154,221],"most":[105],"individuals":[106],"are":[107,128,244],"related":[108],"through":[109],"single,":[111],"pedigree.":[113],"Chapter":[115,162,257],"2,":[116],"describe":[118],"new":[120,276],"statistical":[121],"test":[122],"likely":[129],"influenced":[130],"by":[131,286,291],"large":[135,225,242],"effect.":[136],"found":[138,212],"evidence":[139,214],"presence":[142],"influencing":[146],"few":[148],"traits,":[149],"including":[150],"(remarkably)":[151],"one":[152,218],"null":[156],"mutation":[157],"was":[158,227],"previously":[159,228],"identified.":[160],"3,":[163],"performance":[167],"Markov-chain":[169],"Monte":[170],"Carlo":[171],"(MCMC)":[172],"algorithms":[173,191],"linkage":[175,216],"analysis":[176],"with":[180],"pedigrees":[182],"dense":[184],"maps.":[186],"discovered":[188,316],"current":[190],"fail":[192],"converge,":[194],"resulting":[195],"highly":[197],"variable":[198],"LOD":[199],"(logarithm":[200],"odds)":[203],"scores":[204],"between":[205],"MCMC":[206],"runs.":[207],"Despite":[208],"variability,":[210],"consistent":[213],"trait":[219],"locus":[223],"effect":[226,243],"mapped.":[229],"Together,":[230],"results":[231],"from":[232],"chapters":[233],"2":[234],"3":[236],"imply":[237],"unlikely":[245],"explain":[247],"4,":[258],"consider":[260],"might":[263],"be":[264,335],"overestimated":[265],"rather":[266],"than":[267],"missing.":[268],"To":[269],"explore":[270],"possibility,":[272],"regression-based":[277],"method":[278,297,319,340],"estimate":[280],"is":[283,298],"not":[284,307],"inflated":[285],"As":[289],"suggested":[290],"Zuk":[292],"et":[293],"al.":[294],"(2012),":[295],"ideal":[299],"use":[301],"isolates":[304],"but":[305],"has":[306],"investigated":[309],"realistic":[311],"data":[312],"settings.":[313],"Unexpectedly,":[314],"produces":[320],"biased":[321],"estimates":[322],"narrow-sense":[325],"heritability,":[326],"even":[327],"purely":[329],"polygenic":[330],"Thus,":[332],"caution":[333],"should":[334],"exercised":[336],"before":[337],"using":[338],"attributing":[342]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
