GENOMITexplorer is an open access online resource created as part of the study “Diagnosing pediatric mitochondrial disease by exome sequencing: lessons from 2,000 suspected cases” by Stenton et al., (in submission) led by Dr. Holger Prokisch at the Technical University of Munich. It is the result of an international collaboration initiated by the European Network for Mitochondrial Diseases (GENOMIT).

GENOMIT is an E-Rare funded network of partners at established national hubs for the biochemical diagnosis,genetic diagnosis, and care of patients with mitochondriopathies acting in close collaboration with mitochondrial disease patient organizations to improve the diagnosis and care of mitochondrial disease patients.

All clinicians and researchers contributing data to GENOMITexplorer or involved in the creation of the resource are acknowledged here.

The resource contains:

1) Information on the variant-level for all “pathogenic” and “likely pathogenic” variants reported across >1,000 patients in the GENOMIT exome study and >200 patients in the Leigh syndrome study by the Beijing Leigh Group Project.

Variants are listed with their respective predicted function, heteroplasmy level (for mitochondrial DNA variants), allele frequency (according to gnomAD), CADD score, SIFT score, ACMG classification, functional evidence, and phenotype semantic similarity score.

2) Information on HPO-gene associations, on the patient-level (>7,500 patients) and gene-level (>450 genes).

HPO-gene association are provided for all patients included in the exome study (>2,000) in addition to molecularly diagnosed patients from mitochondrial disease registries (mitoNET and Besta, >1,000), from the Beijing Leigh Group Project (>200), and from literature reports (>4,500). For mtDNA encoded diagnoses, associations are provided on the variant level.

The most discriminating phenotypes by molecular diagnosis can be explored for all genes with ≥5 reported patients carrying “pathogenic” and “likely pathogenic” variants.

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