PHASE
PHASE performs haplotype reconstruction and recombination rate estimation from population genotype data using Bayesian statistical methods.
Key Features:
- Haplotype Reconstruction: Reconstructs haplotypes from population genotype data to infer phased individual- and population-level haplotypes.
- Recombination Rate Estimation: Estimates recombination rates to support genetic linkage mapping and analysis of recombination patterns.
- Bayesian Methodology: Implements Bayesian statistical methods with explicit prior models and computational strategies for haplotype inference.
- Algorithmic Innovation (Version 2.0): Version 2.0 synthesizes multiple Bayesian approaches into a hybrid algorithm that integrates modeling strategies and computational techniques from the compared methods.
Scientific Applications:
- Genetic Epidemiology: Identifying genetic factors linked to diseases through haplotype reconstruction and recombination rate estimation.
- Population Genetics: Analyzing genetic variation to study population structure and history.
- Evolutionary Biology: Investigating recombination patterns to understand evolutionary mechanisms and species adaptation.
Methodology:
PHASE compares three Bayesian methods for haplotype inference, contrasts their prior models and computational strategies, and Version 2.0 synthesizes these methods into a hybrid approach; performance was evaluated on real and simulated data.
Topics
Collections
Details
- License:
- MIT
- Tool Type:
- command-line tool
- Operating Systems:
- Linux, Windows
- Programming Languages:
- C++
- Added:
- 8/20/2017
- Last Updated:
- 11/25/2024
Operations
Publications
Stephens M, Donnelly P. A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data. The American Journal of Human Genetics. 2003;73(5):1162-1169. doi:10.1086/379378. PMID:14574645. PMCID:PMC1180495.
Documentation
Links
Repository
https://github.com/stephens999/phaseIssue tracker
https://github.com/stephens999/phase/issues