作者
Jonathan Marchini, David Cutler, Nick Patterson, Matthew Stephens, Eleazar Eskin, Eran Halperin, Shin Lin, Zhaohui S Qin, Heather M Munro, Gonçalo R Abecasis, Peter Donnelly
发表日期
2006/3/1
期刊
The American Journal of Human Genetics
卷号
78
期号
3
页码范围
437-450
出版商
Elsevier
简介
Knowledge of haplotype phase is valuable for many analysis methods in the study of disease, population, and evolutionary genetics. Considerable research effort has been devoted to the development of statistical and computational methods that infer haplotype phase from genotype data. Although a substantial number of such methods have been developed, they have focused principally on inference from unrelated individuals, and comparisons between methods have been rather limited. Here, we describe the extension of five leading algorithms for phase inference for handling father-mother-child trios. We performed a comprehensive assessment of the methods applied to both trios and to unrelated individuals, with a focus on genomic-scale problems, using both simulated data and data from the HapMap project. The most accurate algorithm was PHASE (v2.1). For this method, the percentages of genotypes …
引用总数
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J Marchini, D Cutler, N Patterson, M Stephens, E Eskin… - The American Journal of Human Genetics, 2006