Ped-sim

Ped-sim simulates pedigree structures and identical-by-descent (IBD) segments using sex-specific genetic maps and crossover interference models to study how recombination patterns affect IBD distribution among relatives.


Key Features:

  • Sex-Specific Genetic Maps: Supports sex-specific and sex-averaged genetic maps to model male/female recombination rate differences that influence the number and distribution of IBD segments.
  • Crossover Interference Modeling: Simulates crossover events using a crossover interference model or a Poisson model for inter-crossover distances to represent interference effects on crossover spacing and IBD variance.
  • Parental Sex Assignment: Allows random assignment or user-specified parental sexes when using sex-specific maps to control parental sex configurations in simulations.
  • Output Files: Produces [out_prefix].seg containing IBD segments, [out_prefix].fam as a PLINK family file listing simulated relatives, and [out_prefix].log with simulation details.
  • Simulation Comparisons: Simulates combinations of map types and interference models to evaluate their impact on IBD segment distribution and pairwise IBD variance.

Scientific Applications:

  • Modeling IBD Sharing: Studies IBD sharing among close relatives where accurate modeling of shared segments is critical.
  • Recombination Effects on IBD: Evaluates how sex-specific recombination rates and crossover interference affect the number and distribution of shared IBD segments and the standard deviation of pairwise IBD proportions.
  • Genetic Linkage and Disease Studies: Supports investigations of genetic linkage, hereditary disease mapping, and relatedness inference in population genetics.
  • Simulation Validation: Enables comparison of simulated IBD rates to real data by combining sex-specific maps with interference modeling.

Methodology:

Simulations use sex-specific or sex-averaged genetic maps, model crossover events with either a crossover interference model or a Poisson model for inter-crossover distances, allow random or specified parental sex assignment, and run combinations of these settings to evaluate impacts on IBD segment distribution.

Topics

Details

License:
GPL-3.0
Tool Type:
command-line tool
Programming Languages:
C++
Added:
1/14/2020
Last Updated:
11/24/2024

Operations

Publications

Caballero M, Seidman DN, Qiao Y, Sannerud J, Dyer TD, Lehman DM, Curran JE, Duggirala R, Blangero J, Carmi S, Williams AL. Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives. PLOS Genetics. 2019;15(12):e1007979. doi:10.1371/journal.pgen.1007979. PMID:31860654. PMCID:PMC6944377.

PMID: 31860654
PMCID: PMC6944377
Funding: - National Institute of General Medical Sciences: R35 GM133805 - German-Israeli Foundation for Scientific Research and Development: I-2489-407.6/2017 - Israel Science Foundation: 407/17 - National Institutes of Health: P01 HL045222, R01 DK047482, R01 DK053889, R01 HL0113323, T32 GM007617-37, T32 GM083937