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A versatile set of computational tools for inference of genetic ancestry from human molecular data

Pascal BelleauiD, Xintong LiiD, Astrid DeschênesiD, Laine MarrahiD, Alexander KrasnitziD

Abstract

Molecular properties of human diseases and conditions often exhibit dependence on the genetic ancestry of the donor. In order to make more human molecular data available for ancestry-informed research, we developed a set of software tools termed Robust Ancestry Inference using Data Synthesis (RAIDS) for inference of genetic ancestry from sequence data that pose challenges to genotyping. Here we describe a recent expansion and refinement of RAIDS, applicable to nucleic-acid sequence data resultant from a broad range of experimental strategies. These strategies currently include whole-genome, whole-exome, and targeted gene panel sequencing, RNA-Seq, including single-cell RNA-Seq, chromatin-accessibility (ATAC-Seq), and protein-binding (ChIP-Seq) assays. RAIDS inferential tools perform robustly in the presence of somatic nucleic-acid alterations caused by cancer and under the conditions of extreme non-uniformity of sequence read coverage, yielding both global ancestry and ancestral admixtures of the donor. RAIDS is available as an eponymous Bioconductor package.

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02 /Specification & Classification

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