{"id":"https://openalex.org/W2414826318","doi":"https://doi.org/10.1159/000094709","title":"An Alternative Foundation for the Planning and Evaluation of Linkage Analysis","display_name":"An Alternative Foundation for the Planning and Evaluation of Linkage Analysis","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W2414826318","doi":"https://doi.org/10.1159/000094709","mag":"2414826318","pmid":"https://pubmed.ncbi.nlm.nih.gov/16865000"},"language":"en","primary_location":{"id":"doi:10.1159/000094709","doi":"https://doi.org/10.1159/000094709","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000094709","pdf_url":null,"source":{"id":"https://openalex.org/S97696616","display_name":"Human Heredity","issn_l":"0001-5652","issn":["0001-5652","1423-0062"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-4"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Heredity","raw_type":"journal-article"},"volume":null,"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/A5041161022","display_name":"Lisa J. Strug","orcid":"https://orcid.org/0000-0003-0503-9740","observed_orcids":["https://orcid.org/0000-0003-0503-9740"]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lisa J. Strug","raw_affiliation_strings":["Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, USA. ljs2109@columbia.edu","Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, USA. ljs2109@columbia.edu","institution_ids":["https://openalex.org/I78577930"]},{"raw_affiliation_string":"Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, and","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112582445","display_name":"Susan E. Hodge","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Susan E. Hodge","raw_affiliation_strings":["Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, Columbia University, and","institution_ids":["https://openalex.org/I78577930"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I78577930"],"apc_list":null,"apc_paid":null,"fwci":1.1365,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.78567475,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"61","issue":"3","first_page":"166","last_page":"188"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9663000106811523,"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":0.9663000106811523,"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/T11235","display_name":"Statistical Methods in Clinical Trials","score":0.009399999864399433,"subfield":{"id":"https://openalex.org/subfields/2613","display_name":"Statistics and Probability"},"field":{"id":"https://openalex.org/fields/26","display_name":"Mathematics"},"domain":{"id":"https://openalex.org/domains/3","display_name":"Physical Sciences"}},{"id":"https://openalex.org/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.004600000102072954,"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-analysis","display_name":"linkage analysis","score":0.878000020980835},{"id":"https://openalex.org/keywords/lod-score","display_name":"lod score","score":0.8270000219345093},{"id":"https://openalex.org/keywords/likelihood-ratios","display_name":"likelihood ratios","score":0.9940000176429749},{"id":"https://openalex.org/keywords/error-probability","display_name":"error probability","score":0.949999988079071},{"id":"https://openalex.org/keywords/statistical-evidence","display_name":"statistical evidence","score":0.6650000214576721},{"id":"https://openalex.org/keywords/study-planning","display_name":"learning planning","score":0.6200000047683716},{"id":"https://openalex.org/keywords/incomplete-penetrance","display_name":"incomplete penetrance","score":0.6809999942779541},{"id":"https://openalex.org/keywords/nuclear-family","display_name":"nuclear family","score":0.6129999756813049},{"id":"https://openalex.org/keywords/recombination-fraction","display_name":"recombination frequency","score":0.8539999723434448},{"id":"https://openalex.org/keywords/multiple-testing","display_name":"multiple comparisons","score":0.6620000004768372},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.335999995470047}],"concepts":[{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.807868480682373},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.5909504890441895},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5459153652191162},{"id":"https://openalex.org/C106934330","wikidata":"https://www.wikidata.org/wiki/Q1971873","display_name":"Trait","level":2,"score":0.4840533137321472},{"id":"https://openalex.org/C2781067378","wikidata":"https://www.wikidata.org/wiki/Q17027399","display_name":"Interpretability","level":2,"score":0.4738895297050476},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.38028955459594727},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.3508639335632324},{"id":"https://openalex.org/C105795698","wikidata":"https://www.wikidata.org/wiki/Q12483","display_name":"Statistics","level":1,"score":0.3400413990020752},{"id":"https://openalex.org/C33923547","wikidata":"https://www.wikidata.org/wiki/Q395","display_name":"Mathematics","level":0,"score":0.245839923620224},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2200455665588379},{"id":"https://openalex.org/C154945302","wikidata":"https://www.wikidata.org/wiki/Q11660","display_name":"Artificial intelligence","level":1,"score":0.21745160222053528},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.10986721515655518},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003198","descriptor_name":"Computer Simulation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003627","descriptor_name":"Data Interpretation, Statistical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","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":"D011336","descriptor_name":"Probability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1159/000094709","doi":"https://doi.org/10.1159/000094709","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000094709","pdf_url":null,"source":{"id":"https://openalex.org/S97696616","display_name":"Human Heredity","issn_l":"0001-5652","issn":["0001-5652","1423-0062"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-4"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Heredity","raw_type":"journal-article"},{"id":"pmid:16865000","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16865000","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,"listed_in":[],"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":"Human heredity","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[{"id":"https://openalex.org/G1014027198","display_name":null,"funder_award_id":"DK-31775","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G1610055917","display_name":null,"funder_award_id":"NS 47530","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G2156111040","display_name":"Two-Locus Models, Heterogeneity and Diabetes","funder_award_id":"R01DK031775","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G5191739587","display_name":"A MULTICENTER STUDY OF IDIOPATHIC GENERALIZED EPILEPSY","funder_award_id":"R01NS027941","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G5933131138","display_name":null,"funder_award_id":"DK-31813","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G7082817793","display_name":"Psychiatric Genetics and Family Studies: Robust Methods","funder_award_id":"R01MH048858","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"},{"id":"https://openalex.org/G709123266","display_name":null,"funder_award_id":"NS-27941","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G7511286779","display_name":"Genetics of Rolandic Epilepsy","funder_award_id":"R01NS047530","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G976693344","display_name":null,"funder_award_id":"MH 48858","funder_id":"https://openalex.org/F4320337346","funder_display_name":"National Institute of Mental Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337346","display_name":"National Institute of Mental Health","ror":"https://ror.org/04xeg9z08"},{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1484286881","https://openalex.org/W1582193786","https://openalex.org/W1972305486","https://openalex.org/W1976741643","https://openalex.org/W2022989436","https://openalex.org/W2076758225","https://openalex.org/W2140573463","https://openalex.org/W2143893263","https://openalex.org/W2323930055","https://openalex.org/W2332142174"],"related_works":["https://openalex.org/W2013110935","https://openalex.org/W1540860105","https://openalex.org/W1972305486","https://openalex.org/W2107918500","https://openalex.org/W2148022809","https://openalex.org/W204892056","https://openalex.org/W2332142174","https://openalex.org/W2051726936","https://openalex.org/W1511720109","https://openalex.org/W2007934200"],"abstract_inverted_index":{"The":[0],"lod":[1],"score,":[2],"which":[3],"is":[4,11,54,176,183,189,196,212],"based":[5],"on":[6,76],"the":[7,38,46,66,70,114,126,163,169,201,210,216],"likelihood":[8],"ratio":[9],"(LR),":[10],"central":[12],"to":[13,86,153],"linkage":[14,87,148,155,159,180,193],"analysis.":[15],"Users":[16],"interpret":[17],"lods":[18],"by":[19,168],"translating":[20],"them":[21],"into":[22],"standard":[23],"statistical":[24,36],"concepts":[25],"such":[26,161],"as":[27,117,119],"p":[28],"values,":[29],"alpha":[30],"levels":[31],"and":[32,69,103,110,133,147,157,200,225],"power.":[33],"An":[34],"alternative":[35],"paradigm,":[37],"Evidential":[39],"Framework,":[40],"in":[41,207,222],"contrast,":[42],"works":[43],"directly":[44],"with":[45],"LR.":[47],"A":[48],"key":[49],"feature":[50],"of":[51,62,73,89,142,165,203,209],"this":[52,74,84,220],"paradigm":[53,221],"that":[55,162,174,187],"it":[56],"decouples":[57],"error":[58,79,127],"probabilities":[59,128,164],"from":[60],"measures":[61],"evidence.":[63],"We":[64,81,107,124,150,214],"describe":[65],"philosophy":[67],"behind":[68],"operating":[71],"characteristics":[72],"paradigm--based":[75],"new,":[77],"alternatively-defined":[78],"probabilities.":[80],"then":[82],"apply":[83],"approach":[85],"studies":[88,224],"a":[90,140],"genetic":[91,223],"trait":[92],"for:":[93],"I.":[94],"fully":[95],"informative":[96],"gametes,":[97],"II.":[98],"double":[99],"backcross":[100],"sibling":[101],"pairs,":[102],"III.":[104],"nuclear":[105],"families.":[106],"consider":[108],"complete":[109],"incomplete":[111],"penetrance":[112],"for":[113,130,137,218,226,230],"disease":[115],"model,":[116],"well":[118],"using":[120],"an":[121],"incorrect":[122],"penetrance.":[123],"calculate":[125],"(exactly":[129],"situations":[131],"I":[132],"II,":[134],"via":[135],"simulation":[136],"III),":[138],"over":[139],"range":[141],"recombination":[143],"fractions,":[144],"sample":[145],"sizes,":[146],"criteria.":[149],"show":[151],"how":[152],"choose":[154],"criteria":[156],"plan":[158],"studies,":[160],"being":[166],"misled":[167],"data":[170],"(i.e.":[171],"concluding":[172],"either":[173],"there":[175,182,188,195],"strong":[177,190,205],"evidence":[178,191,206],"favouring":[179],"when":[181,194],"no":[184],"linkage,":[185],"or":[186],"against":[192],"linkage)":[197],"are":[198],"low,":[199],"probability":[202],"observing":[204],"favour":[208],"truth":[211],"high.":[213],"lay":[215],"groundwork":[217],"applying":[219],"understanding":[227],"its":[228],"implications":[229],"multiple":[231],"tests.":[232]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
