Understanding the accuracy of statistical haplotype inference with sequence data of known phase.

ABSTRACT: Statistical methods for haplotype inference from multi-site genotypes of unrelated individuals have important application in association studies and population genetics. Understanding the factors that affect the accuracy of this inference is important, but their assessment has been restricted by the limited availability of biological data with known phase. We created hybrid cell lines monosomic for human chromosome 19 and produced single-chromosome complete sequences of a 48 kb genomic region in 39 individuals of African American (AA) and European American (EA) origin. We employ these phase-known genotypes and coalescent simulations to assess the accuracy of statistical haplotype reconstruction by several algorithms. Accuracy of phase inference was considerably low in our biological data e

SUBMITTER: Andres AM 

PROVIDER: S-EPMC2291540 | biostudies-literature | 2007 Nov

REPOSITORIES: biostudies-literature