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R package for introgression detection using coverage depth in GBS sequencing data

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MaMaMIA

MaMaMIA (Max Mapping for Meticulous Introgression Analysis) detects interspecific introgressions from Genotyping-by-Sequencing (GBS) coverage data.

It builds a Read Count Array (RCA) from windowed donor and recipient coverage and GC-content tables, corrects GC bias with a zero-inflated negative binomial model, and segments pairwise coverage differences with circular binary segmentation (CBS) into an Introgression Segment Array (ISA). Putative introgressions can be plotted, filtered, and exported as BEDPE.

MaMaMIA ships with an example wheat dataset (triticum: T. timopheevii donor vs T. aestivum Chinese Spring T2T recipient). See vignette("Overview", package = "MaMaMIA") for a full walkthrough.

Installation

You can install MaMaMIA from GitHub with:

# install.packages("devtools")
devtools::install_github("alermol/mamamia")

Resource use

The GC-bias fit differentiates the likelihood window by window, so peak memory and runtime scale with the number of fitted windows, not with cores: budget roughly 0.1 MB per window and 0.85 s per 1,000 windows at cores = 4. The bundled triticum example fits 34,000 windows and peaks near 3.6 GB, so fitting is practical up to a few tens of thousands of windows on a typical machine (350,000 would need roughly 36 GB).

For a batch of samples, run one process per sample with cores = 1 rather than one wide multi-threaded call, with OMP_NUM_THREADS=1 in each worker. The thread count shifts fitted values by around 1e-7, so fixing it makes a sample's result independent of the worker it ran on, while throughput comes from the number of workers. The overview vignette has the full guidance and figures.

Disclaimer

This package is still under active development, the content is therefore subject to change.

Contact

Suggestions and bug reports: please open an issue.

About

R package for introgression detection using coverage depth in GBS sequencing data

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