MitImpact is a collection of genomic, clinical and functional annotations for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes
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[14-01-2026] nAPOGEE v1.0.0 released, now available for download from the top-right menu. This release includes pathogenicity scores and probabilities for all mitochondrial noncoding variants. VUS are subclassified into cold (VUS-), actual (VUS), and hot (VUS+) variants. We also published the preprint entitled "nAPOGEE: A machine-learning platform for clinically actionable pathogenicity assessment of all mitochondrial noncoding variants" .
[27-08-2024] MitImpact 3D 3.1.3 released today, with minor fixes in the search engine and vcf annotator. Uptated MITOMAP, ClinVar, and dbSNP. Added OMIM and HGNC ids, and HGVS-based description of variants to help diagnosis reporting. Added AlphaMissense predictions. Added ToMMo 54KJPN allelic frequencies (see the Output legend page)
[27-02-2024] We announce the alpha release of the APOGEE pathogenicity prediction scores of tRNA variants. The bulk download of all possible tRNA variants is available from the Download menu in the top-right corner. The file contains a pathogenicity score for each variant (0 = benign, 1 = pathogenic) and an "out-of-bag" unbiased score that we recommend and that scores correctly the variants of the training set. Give us your feedbacks!
[23-08-2023] A paper entitled APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants was just published in Nature Communications and is available here!
