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Article

ACVI-Med, an open source variant interpretation tool for medical genomics.

BMC bioinformatics - 4 Mar 2026

Stadler Moritz, Gansberger Sabina, Borik-Heil Liliane, Griss Johannes, Okamoto Ichiro, Weninger Wolfgang P, Wielscher Matthias

Abstract excerpt

BACKGROUND: The adoption of whole genome and exome sequencing (WGS/WES) is expanding rapidly, yet variant interpretation remains a critical bottleneck, limiting diagnostic yield and delaying precision care. We present ACVI-Med (Accelerated Candidate Variant Interpretation in Medicine), an open-source, on-premise platform for comprehensive analysis of genomic data. RESULTS: ACVI-Med integrates phenotype-aware...

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Identifiers

PMID: 41781882
DOI: 10.1186/s12859-026-06414-2
PMCID: PMC13069756

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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