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SimRVSequences: an R package to simulate genetic sequence data for pedigrees.

Christina Nieuwoudt1, Angela Brooks-Wilson2,3, Jinko Graham1

  • 1Department of Statistics and Actuarial Science, Simon Fraser University, Burnaby, BC V5A 1S6.

Bioinformatics (Oxford, England)
|November 26, 2019
PubMed
Summary
This summary is machine-generated.

The SimRVSequences R package simulates genetic sequence data for pedigrees, enabling large-scale analysis of single-nucleotide variants (SNVs). This tool efficiently handles numerous pedigrees and SNVs, aiding genetic research.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Accurate simulation of genetic sequence data is crucial for understanding inheritance patterns and disease.
  • Existing tools may face limitations in scalability for large pedigrees and high variant loads.

Purpose of the Study:

  • To introduce SimRVSequences, an R package designed for simulating sequence data in pedigrees.
  • To provide a scalable solution for generating large numbers of single-nucleotide variants (SNVs) across multiple pedigrees.

Main Methods:

  • The SimRVSequences package utilizes user-provided pedigree structures and SNV data from unrelated individuals.
  • The package is implemented in R and designed for efficient computation.

Main Results:

  • SimRVSequences enables the simulation of extensive SNV datasets.
  • The package demonstrates good scalability with an increasing number of pedigrees.

Conclusions:

  • SimRVSequences offers a valuable tool for researchers needing to simulate complex genetic data for family-based studies.
  • The package's scalability facilitates large-scale genetic analyses and simulations.