mehari: high-performance, strict HGVS-first variant effect prediction

Tools

Preview	PDF (Preprint) - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader 240kB
	Other (Supplementary Material) 1MB

Item Type:	Preprint
Title:	mehari: high-performance, strict HGVS-first variant effect prediction
Creators Name:	Hartmann, Till, Zhao, Max, Beule, Dieter and Holtgrewe, Manuel
Abstract:	Variant annotation requires the precise and consistent computation of Sequence Ontology (SO) terms and Human Genome Variation Society (HGVS) nomenclature. To ensure robust synchronization between these two key facets, we present mehari, a high-performance variant effect predictor implemented in Rust that employs a strict "HGVS-first" approach. By deterministically projecting variants to transcripts before evaluating functional consequences, mehari structurally aligns HGVS notation and SO terms. Benchmarking on ClinVar demonstrates that mehari achieves exceptional processing speeds and high concordance with established tools like Ensembl VEP, while also providing refined handling for complex biological edge cases such as selenoprotein recoding.
Keywords:	variant Annotation, Variant Effect Prediction
Source:	bioRxiv
Publisher:	Cold Spring Harbor Laboratory Press
Article Number:	2026.05.12.724271
Date:	14 May 2026
Official Publication:	https://doi.org/10.64898/2026.05.12.724271
Related to:	URL URL Type https://github.com/varfish-org/mehari Software https://snakemake-wrappers.readthedocs.io/en/stable/wrappers/bio/mehari.html Software https://github.com/varfish-org/mehari-data-tx Software https://varfish-org.github.io/mehari/ Software

Repository Staff Only: item control page

Download Statistics

Downloads

Downloads per month over past year