haptools

haptools integrates local ancestry and haplotype information into genome-wide association studies and related analyses, providing simulation of admixed genomes, haplotype-specific phenotype simulation, admixture-track visualization, and haplotype-aware file operations and statistics.


Key Features:

  • Local Ancestry Awareness: Incorporates local ancestry data to inform analyses in individuals from diverse and recently admixed populations.
  • Haplotype-Based Analysis: Supports haplotype-specific analysis to examine phenotypic effects associated with particular haplotypes.
  • Fast Simulation of Admixed Genomes: Simulates admixed genomes efficiently to model genetic diversity resulting from recent admixture events.
  • Visualization Tools: Visualizes admixture tracks to display the distribution of ancestral contributions across the genome.
  • Phenotype Simulation: Simulates phenotype effects that are specific to haplotypes or local ancestry.
  • Comprehensive File Operations and Statistics: Performs file operations and computes statistics in a haplotype-aware manner.

Scientific Applications:

  • GWAS in Admixed Populations: Enables genome-wide association studies that account for local ancestry and haplotype structure in diverse or recently admixed cohorts.
  • Simulation Studies: Provides simulated admixed genomes and phenotype models for power analyses and method evaluation.
  • Haplotype-Specific Trait Analysis: Facilitates investigation of haplotype-specific contributions to complex trait variation and variant discovery across populations.

Methodology:

Integrates local ancestry and haplotype data into analyses, simulates admixed genomes, visualizes admixture tracks, and simulates phenotype effects based on haplotypes or local ancestry.

Topics

Details

License:
MIT
Cost:
Free of charge
Tool Type:
command-line tool, library
Operating Systems:
Mac, Linux, Windows
Programming Languages:
Python
Added:
3/20/2023
Last Updated:
11/24/2024

Operations

Publications

Massarat AR, Lamkin M, Reeve C, Williams AL, D’Antonio M, Gymrek M. Haptools: a toolkit for admixture and haplotype analysis. Bioinformatics. 2023;39(3). doi:10.1093/bioinformatics/btad104. PMID:36847450. PMCID:PMC9991497.

PMID: 36847450
PMCID: PMC9991497
Funding: - National Institutes of Health: R35GM133805

Links