MazzaLab Bioinformatics’ Post

MitImpact, our collection of genomic, clinical and functional annotations for all nucleotide changes that cause non-synonymous substitutions in human mitochondrial protein coding genes, was updated to its version 3.1.3. This latest release includes: - minor fixes in the search engine and vcf annotator; - updated content of MITOMAP, ClinVar, and dbSNP; - added OMIM and HGNC ids; - added HGVS-based descriptions of variants to help diagnosis reporting; - added AlphaMissense predictions; - added MLC, the mitochondrial local constraint assessments; - added ToMMo 54KJPN allelic frequencies. Check it out at: https://lnkd.in/dWDsQdhH Developed at Ospedale Casa Sollievo della Sofferenza by MazzaLab Bioinformatics #bioinformatics #mitochondrial #genome #database #missense #mitimpact #annotation

  • No alternative text description for this image
Lishuang Shen

Discover from patient clinical and genomic data, get the resources and methods ready for clinical assays

2mo

A great mtDNA annotation resource

To view or add a comment, sign in

Explore topics