New tool set: Quick-Mitome – Phenotype-Guided WES and WGS Variant Interpretation

MSeqDR Mito-Quick-ome Web Server provides quick whole genome (WGS) or whole exome (WES) sequencing data interpretation tools to both laymen and expert users, with special supports to mitochondrial diseases and mitochondrial DNA (mtDNA) variants. The required input are uploaded vcf file, pedigree file if the vcf is multiple sample vcf, and clinical phenotypes described as a list of existing HPO IDs or free txt which can be real time mapped to HPO terms within our server.

The server automatically creates new de-identified pseudo-patient record in MSeqDR Patient Registry which captures raw and HPO-encoded clinical information, variant VCF and ranking, and pedigree data. All these operations can be finished in 4 to 15 minutes for input sizes of 1,320 to 130,000 variants respectively. The unified report portal page shows condensed high level summary of Exomiser scoring and ranking, clinical and diagnosis predictions, genomics in silica predictions, reference populations, other WGS or WES sample’s data, and is accessible through flexible searches by patient ID, gene, region, or variants.