VelosGT: An App for Variant Analysis and Rare Disease Discovery

Flygare, J.; Born, A.

doi:10.1101/2023.08.11.550418

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bioRxiv · 10.1101/2023.08.11.550418

VelosGT: An App for Variant Analysis and Rare Disease Discovery

Flygare, J.·Born, A.

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Abstract

VelosGT is a MacOS application to analyze human genomes for genetic mutation and rare disease. It consumes raw read files (fasta/fastq) and returns annotated, functionally prioritized variants in a single step, while significantly out-performing standard pipelines. VelosGT ingests short-read data in all common formats (fastq, fasta, fastq.gz, and fasta.gz) as well as paired data. It can perform analyses on single genomes (proband) or trios. The underlying algorithms have been optimized to the extent that it can run directly on a personal computer, with no additional hardware required. This increases convenience and speed because no large uploads or downloads are required. All discovered variants are immediately displayed and searchable within the app. On an average* Mac laptop, VelosGT will return the results of a high-coverage 30GB read file in under an hour, and a 5GB read file in ten minutes or less. Trios can be computed using the completed child-parent analyses in a few minutes.

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Flygare, J., Born, A.. 2023-08-12. VelosGT: An App for Variant Analysis and Rare Disease Discovery. https://doi.org/10.1101/2023.08.11.550418

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