{"id":"https://openalex.org/W5057037","doi":null,"title":"Using discordant sib pairs to map loci for qualitative traits with high sibling recurrence risk.","display_name":"Using discordant sib pairs to map loci for qualitative traits with high sibling recurrence risk.","publication_year":1996,"publication_date":"1996-12-01","ids":{"openalex":"https://openalex.org/W5057037","mag":"5057037","pmid":"https://pubmed.ncbi.nlm.nih.gov/8940283","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1914873"},"language":"en","primary_location":{"id":"pmid:8940283","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8940283","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":"American journal of human genetics","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914873/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5010413483","display_name":"John J. Rogus","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1293231726","display_name":"Joslin Diabetes Center","ror":"https://ror.org/0280a3n32","country_code":"US","type":"facility","lineage":["https://openalex.org/I1293231726"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J J Rogus","raw_affiliation_strings":["Joslin Diabetes Center, Section on Epidemiology and Genetics, Boston, MA 02215. jrogus@hsph.harvard.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Joslin Diabetes Center, Section on Epidemiology and Genetics, Boston, MA 02215. jrogus@hsph.harvard.edu","institution_ids":["https://openalex.org/I1293231726","https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075863437","display_name":"Andrzej S. Kr\u00f3lewski","orcid":"https://orcid.org/0000-0002-1705-2953","observed_orcids":["https://orcid.org/0000-0002-1705-2953"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A S Krolewski","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.821,"has_fulltext":false,"cited_by_count":40,"citation_normalized_percentile":{"value":0.83617459,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"59","issue":"6","first_page":"1376","last_page":"81"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9628999829292297,"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":0.9628999829292297,"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":0.03359999880194664,"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/T10012","display_name":"Genetic diversity and population structure","score":0.0005000000237487257,"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/affected-sib-pairs","display_name":"affected sib pairs","score":0.9679999947547913},{"id":"https://openalex.org/keywords/linkage-mapping","display_name":"linkage mapping","score":0.8920000195503235},{"id":"https://openalex.org/keywords/sibling-recurrence-risk","display_name":"sibling recurrence risk","score":0.8809999823570251},{"id":"https://openalex.org/keywords/qualitative-traits","display_name":"qualitative traits","score":0.8519999980926514},{"id":"https://openalex.org/keywords/allele-sharing","display_name":"allele sharing","score":0.6650000214576721},{"id":"https://openalex.org/keywords/statistical-power","display_name":"statistical power","score":0.8500000238418579},{"id":"https://openalex.org/keywords/type-1-diabetes","display_name":"type 1 diabetes","score":0.8270000219345093},{"id":"https://openalex.org/keywords/diabetic-nephropathy","display_name":"diabetic nephropathy","score":0.996999979019165},{"id":"https://openalex.org/keywords/pima-indians","display_name":"Pima Indians","score":0.859000027179718},{"id":"https://openalex.org/keywords/quantitative-trait-loci","display_name":"quantitative trait loci","score":0.6110000014305115}],"concepts":[{"id":"https://openalex.org/C2776194465","wikidata":"https://www.wikidata.org/wiki/Q31184","display_name":"Sibling","level":2,"score":0.7486255168914795},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.5358428359031677},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.5251410007476807},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.48487553000450134},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4684355854988098},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.32688450813293457},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.12427762150764465},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10358649492263794},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.07866212725639343}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D003922","descriptor_name":"Diabetes Mellitus, Type 1","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D003922","descriptor_name":"Diabetes Mellitus, Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003928","descriptor_name":"Diabetic Nephropathies","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004198","descriptor_name":"Disease Susceptibility","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009679","descriptor_name":"Nuclear Family","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmid:8940283","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8940283","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1914873","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914873/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},{"id":"mag:5057037","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8940283","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1914873","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1914873/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9074000120162964,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W48750798","https://openalex.org/W1976741643","https://openalex.org/W2003510810","https://openalex.org/W2020734415","https://openalex.org/W2051008597","https://openalex.org/W2055456263","https://openalex.org/W2061033381","https://openalex.org/W2067679923","https://openalex.org/W2083321664","https://openalex.org/W2106685501","https://openalex.org/W2123869079","https://openalex.org/W2152582537","https://openalex.org/W2340171512"],"related_works":["https://openalex.org/W2051008597","https://openalex.org/W2018266186","https://openalex.org/W2092637435","https://openalex.org/W2002835979","https://openalex.org/W1599006802","https://openalex.org/W2067779365","https://openalex.org/W2064114947","https://openalex.org/W2146963542","https://openalex.org/W2470367678","https://openalex.org/W245508635"],"abstract_inverted_index":{"A":[0],"common":[1],"approach":[2,53],"for":[3,35,112,158],"detecting":[4],"genetic":[5],"linkage":[6],"using":[7],"siblings":[8,168],"is":[9],"to":[10,17,41,46,106,162,192],"collect":[11],"affected":[12,130],"sib":[13,32],"pairs":[14,33],"(ASPs)":[15],"and":[16,90],"identify":[18],"markers":[19,26],"where":[20],"allele":[21,36],"sharing":[22,37],"exceeds":[23],"expectation.":[24,39],"Alternatively,":[25],"can":[27,117,141,187],"be":[28,118,142],"analyzed":[29],"in":[30,127,184],"discordant":[31],"(DSPs)":[34],"below":[38],"Relative":[40],"the":[42,48,51,59,86,91,94,102,122,134,174,182],"ASP":[43],"approach,":[44],"according":[45],"Risch,":[47],"power":[49,116],"of":[50,88,93,104],"DSP":[52,113],"increases":[54],"with":[55,70,74,169],"sibling":[56,77,138],"recurrence":[57,67,78,139,165],"risk,":[58,79],"two":[60],"approaches":[61],"being":[62],"equally":[63],"effective":[64],"at":[65],"50%":[66],"risk.":[68],"However,":[69],"many":[71],"diseases":[72],"associated":[73],"more":[75,109,180],"moderate":[76],"less":[80],"emphasis":[81],"has":[82],"been":[83],"placed":[84],"on":[85],"use":[87],"DSPs":[89,147,155,186],"development":[92],"underlying":[95],"theory.":[96],"In":[97],"this":[98],"paper,":[99],"we":[100,151,178],"expand":[101],"work":[103],"Risch":[105],"provide":[107,188],"a":[108,163],"general":[110],"foundation":[111],"studies,":[114],"since":[115],"quite":[119],"high":[120],"under":[121],"appropriate":[123],"conditions.":[124],"For":[125],"example,":[126,177],"some":[128],"highly":[129],"populations,":[131],"such":[132],"as":[133,150],"diabetes-prone":[135],"Pima":[136],"Indians,":[137],"risk":[140],"very":[143],"large":[144],"and,":[145],"thus,":[146],"ideal.":[148],"Similarly,":[149],"show":[152],"through":[153],"simulation,":[154],"are":[156],"preferable":[157],"diabetic":[159,175],"nephropathy":[160,176],"due":[161],"70%":[164],"rate":[166],"among":[167],"insulin-dependent":[170],"diabetes":[171],"mellitus.":[172],"Following":[173],"consider":[179],"systematically":[181],"situations":[183],"which":[185],"an":[189],"efficient":[190],"alternative":[191],"ASPs.":[193]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}