Document Detail

Improved inference of relationship for pairs of individuals.
MedLine Citation:
PMID:  11032786     Owner:  NLM     Status:  MEDLINE    
Linkage analyses of genetic diseases and quantitative traits generally are performed using family data. These studies assume the relationships between individuals within families are known correctly. Misclassification of relationships can lead to reduced or inappropriately increased evidence for linkage. Boehnke and Cox (1997) presented a likelihood-based method to infer the most likely relationship of a pair of putative sibs. Here, we modify this method to consider all possible pairs of individuals in the sample, to test for additional relationships, to allow explicitly for genotyping error, and to include X-linked data. Using autosomal genome scan data, our method has excellent power to differentiate monozygotic twins, full sibs, parent-offspring pairs, second-degree (2 degrees ) relatives, first cousins, and unrelated pairs but is unable to distinguish accurately among the 2 degrees relationships of half sibs, avuncular pairs, and grandparent-grandchild pairs. Inclusion of X-linked data improves our ability to distinguish certain types of 2 degrees relationships. Our method also models genotyping error successfully, to judge by the recovery of MZ twins and parent-offspring pairs that are otherwise misclassified when error exists. We have included these extensions in the latest version of our computer program RELPAIR and have applied the program to data from the Finland-United States Investigation of Non-Insulin-Dependent Diabetes Mellitus (FUSION) study.
M P Epstein; W L Duren; M Boehnke
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.     Date:  2000-10-13
Journal Detail:
Title:  American journal of human genetics     Volume:  67     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2000 Nov 
Date Detail:
Created Date:  2000-11-30     Completed Date:  2000-12-14     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1219-31     Citation Subset:  IM    
Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
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MeSH Terms
Chromosome Mapping / methods*
Computer Simulation
Diabetes Mellitus, Type 2 / genetics
Gene Frequency / genetics
Genetic Markers / genetics
Genetic Testing
Likelihood Functions
Linkage (Genetics) / genetics
Matched-Pair Analysis*
Models, Genetic
Multicenter Studies as Topic
Nuclear Family
Research Design
Twins, Monozygotic
X Chromosome / genetics
Grant Support
Reg. No./Substance:
0/Genetic Markers
Erratum In:
Am J Hum Genet 2000 Dec;67(6):1631

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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