kalis: a modern implementation of the Li & Stephens model for local ancestry inference in R.

BMC Bioinformatics

Department of Genetics, Yale School of Medicine, 333 Cedar Street, New Haven, CT, 06520, USA.

Published: February 2024


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Article Abstract

Background: Approximating the recent phylogeny of N phased haplotypes at a set of variants along the genome is a core problem in modern population genomics and central to performing genome-wide screens for association, selection, introgression, and other signals. The Li & Stephens (LS) model provides a simple yet powerful hidden Markov model for inferring the recent ancestry at a given variant, represented as an distance matrix based on posterior decodings.

Results: We provide a high-performance engine to make these posterior decodings readily accessible with minimal pre-processing via an easy to use package kalis, in the statistical programming language R. kalis enables investigators to rapidly resolve the ancestry at loci of interest and developers to build a range of variant-specific ancestral inference pipelines on top. kalis exploits both multi-core parallelism and modern CPU vector instruction sets to enable scaling to hundreds of thousands of genomes.

Conclusions: The resulting distance matrices accessible via kalis enable local ancestry, selection, and association studies in modern large scale genomic datasets.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10900616PMC
http://dx.doi.org/10.1186/s12859-024-05688-8DOI Listing

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