Article

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

2026-05-14

Abstract excerpt

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 evaluati...

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Literature Corpus work: bf7d72c0-0dc3-5c69-ac93-2e8fc877f137
DOI: 10.64898/2026.05.12.724271

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