SPEARS

SPEARS evaluates genome-wide ancestral haplotype inference through simulation to quantify the accuracy of reconstructed descendant haplotypes from sparse genotype data.


Key Features:

  • Simulation-Based Appraisal: Generates virtual genotypes that reflect real-world missing data patterns to produce truth datasets for evaluating haplotype reconstruction methods.
  • Error Analysis: Simulates imputation and ancestral haplotype reconstruction scenarios to capture sources of error introduced during these processes.
  • Standardized Metrics: Computes standardized metrics to evaluate the accuracy and regional reliability of inferred haplotype structures across the genome.
  • Application Demonstration: Applied to haplotype maps from 1,000 outcross progeny derived from a multi-parent population of maize to illustrate performance on complex genetic data.

Scientific Applications:

  • Recombination Landscape Characterization: Enables mapping of recombination events by assessing reconstructed ancestral haplotypes.
  • Genotype-to-Phenotype Relationships: Facilitates analysis of how variation in reconstructed haplotypes correlates with phenotypic traits.
  • Improved Genomic Predictions: Enhances precision of genomic prediction models for breeding and genetic studies by providing more accurate haplotype maps.

Methodology:

Generates virtual genotypes with realistic missing data patterns, simulates imputation and ancestral haplotype reconstruction to identify errors, and computes standardized metrics to assess fidelity of inferred haplotypes.

Topics

Details

License:
MIT
Programming Languages:
R, Mathematica, Python
Added:
1/18/2021
Last Updated:
2/20/2021

Operations

Publications

Manching H, Wisser RJ. SPEARS: Standard Performance Evaluation of Ancestral Reconstruction through Simulation. Unknown Journal. 2020. doi:10.1101/2020.03.26.008524.