Supporting data for "svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data"

Nuclear integration of mitochondrial genomes and retro-copied transcript insertions are often-overlooked biologically important aspects of structural variant annotation. While tools for their detection exist, these typically rely on re-analysis of primary data using specialised detectors rather than leveraging calls from general-purpose structural variant callers. Such re-analysis potentially leads to additional computational expense and does not take advantage of advances in general-purpose structural variant calling.<br>Here, we present svaRetro and svaNUMT, R packages that provide functions for annotating novel genomic events such as non-reference retro-copied transcripts and nuclear integration of mitochondrial DNA. The packages were developed to work within the Bioconductor framework. We evaluate the performance of these packages to detect events using simulations and public benchmarking datasets and annotate processed transcripts in a public structural variant database.<br>svaRetro and svaNUMT provide modular, SV-caller agnostic tools for downstream annotation of structural variant calls.