Relationship inference from trios of individuals, in the presence of typing error

Citation
Sk. Sieberts et al., Relationship inference from trios of individuals, in the presence of typing error, AM J HU GEN, 70(1), 2002, pp. 170-180
Citations number
17
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
70
Issue
1
Year of publication
2002
Pages
170 - 180
Database
ISI
SICI code
0002-9297(200201)70:1<170:RIFTOI>2.0.ZU;2-D
Abstract
Misspecification of relationships and of genotype data can cause problems i n linkage analyses based on genome-scan data. Previous reports have focused on pairwise relationships and a simple error model. This article considers the increased information available from the joint analysis of trios of in dividuals, integrating this analysis with an error model that allows for th e most common genotyping errors. Given observed marker phenotypes in a geno me scan, computational methods are outlined both for likelihoods of relatio nships and for the posterior probabilities of underlying genotypes. The met hods are applied to examples from two real data sets: one has been previous ly well analyzed, and, hence, Mendelian inconsistencies have been removed; the other typifies the pedigree and genotype errors encountered in the init ial analyses of a study. It is demonstrated that the coupling of relationsh ip inference and error detection is quite effective, that the error model i s computationally practical, and that data on a third relative can often cl arify relationships.