bguo068 / ishare

a Rust crate designed to facilitate the analysis of rare-variant sharing and identity-by-descent (IBD) sharing.

ishare

ishare is a Rust crate designed to facilitate the analysis of rare-variant sharing and identity-by-descent (IBD) sharing.

Currently, it's in pre-alpha stage.

Rare Variant Sharing Analysis

This crate introduces a data structure and its corresponding algorithm for the tabular encoding of rare variant genotype data. The tabular encoding leverages the sparsity of minor alleles at sites with low minor allele frequencies, effectively transforming a large site-oriented genotype matrix into a more compact, manipulable, and accessible data structure. As a result, this design enhances disk IO speeds, facilitates in-memory access to rare variants, and permits large-scale rare variant sharing analysis.

• Command Line Tool: gtencode
• Python Package (work in progress): isharepy

Identity-by-Descent Sharing Analysis

Included in this crate are the data structure and algorithms associated with IBD sharing analysis. It serves as a reimplementation of functionalities present in the Python package ibdutils and the C++ library ibdtools. Key updates from the previous implementations include:

• Use of genome-wide base-pair coordinates for IBD segment start and end fields, as opposed to chromosomal positions. This facilitates easier IBD segment manipulation across chromosomes.

• The itervaltree crate has been integrated to improve various IBD processing and analysis functionalities, enhancing code maintainability and readability.

• Command Line Tool: ibdutils

• Python Package (work in progress): isharepy for IBD-related classes.

Ancestry-Specific IBD

We've introduced a command line tool that integrates local ancestry information from rfmix v2 with IBD segments to derive ancestry-specific IBD. Refer to the binary asibd for this feature.

Requirements

1. Operating Systems: Supported on Linux and MacOS. Windows is currently not supported due to compatibility issues with the rust-htslib dependency.
2. C Compiler: This crate relies on bindings to C libraries.
3. Rust: Ensure cargo and the necessary toolchain are installed to compile this crate and its associated binary executables.

Compilation

cargo build --release --bin gtencode
cargo build --release --bin ibdutils
cargo build --release --bin asibd

Post-compilation, binaries are located in the target/release/ directory.

Install the python package

1. make sure cargo, the necessary toolchain, c compilerare, python 3 are installed
2. use pip to install maturin, numpy and pyarrow

pip install maturin numpy pyarrow

3. install isharepy

cd ishare_py
maturin develop --release
cd ..

Usage

Instructions for each command line tool are as follows:

• toolname --help: Lists available subcommands. E.g., gtencode --help.
• toolname subcommand --help: Displays usage for a specific subcommand. E.g., gtencode encode --help.

Test

Running tests requires cloning test data from https://github.com/bguo068/testdata, which has been added as a submodule of ishare and thus can downloaded by running: git submodule update --init --recursive