Heu-MCHC

Heu-MCHC solves the Minimum-Change Haplotype Configuration (MCHC) problem by inferring haplotypes in pedigree data while minimizing the total number of recombinations and point mutations.


Key Features:

  • Problem Definition: Formulates MCHC as an extension of the Minimum-Recombinant Haplotype Configuration (MRHC) problem that incorporates both recombination and mutation events.
  • Computational Efficiency: Implements a heuristic algorithm grounded in an L-reduction to a coding problem to enable efficient computation.
  • Approximation Guarantees: Provably O(nm/(log nm))-approximable for both MCHC and MRHC on general pedigrees, where n is the pedigree size and m is the genotype length.
  • Flexibility and Adaptability: Adapts the heuristic to solve the original MRHC problem and can leverage additional knowledge about input genotypes.

Scientific Applications:

  • Haplotype inference in pedigrees: Infers haplotype configurations from pedigree genotype data while accounting for recombinations and point mutations.
  • Analysis of genetic variation events: Enables studies that quantify and minimize recombination and mutation events in inheritance patterns.
  • Genetic studies of complex traits and diseases: Supports research into inheritance patterns relevant to complex trait and disease genetics by providing more precise haplotype reconstructions.

Methodology:

The approach defines MCHC (shown APX-hard under several restrictions) and applies a heuristic algorithm based on an L-reduction to a coding problem to obtain an O(nm/(log nm))-approximation.

Topics

Details

Tool Type:
command-line tool
Operating Systems:
Linux
Added:
12/18/2017
Last Updated:
11/25/2024

Operations

Publications

Pirola Y, Bonizzoni P, Tao Jiang. An Efficient Algorithm for Haplotype Inference on Pedigrees with Recombinations and Mutations. IEEE/ACM Transactions on Computational Biology and Bioinformatics. 2012;9(1):12-25. doi:10.1109/tcbb.2011.51. PMID:21383417.

Documentation

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