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