MSeqDR Quick-Mitome - A Phenotype-Guided WES and WGS Variant Interpretation Web Server for Mitochondrial Diseases

Input clinical symptoms and diagnosis description and double click "HPO Annotator" button

  HPO ID: * review at bottom "HPO Annotator"
  Email   send me report when finished

Upload Variant and Pedigree File (VCF format v4+, the sample column is required), then  :

Drag & Drop vcf or Pedigree File Here. Using VCF format v4, the sample genotype column is required.
Optionally upload *.ped file for family-based analysis. After uploading, click  Refresh to see the file ...
 Refresh  Sample input: Demo0001.trio.vcf  Demo0001.trio.ped Demo0001.trio.hpo.txt
 Sample report: Quick-Mitome Interpretation Report
Variant VCF files available:


   

Pedigree files available:
Use this *.ped file
     

  * Do not re-submit or refresh, must leave this page to run till it is completed. The run may need about 15 minutes for input with 1500 variants. Use email function to receive result notice, view Quick-Mitome Interpretation Report

MSeqDR Tool Settings:

MSeqDR mtDNA annotation
VEP annotation and filtering
ClinVar annotation
dbNSFP annotation
gnoMAD Exome AF annotation
Limit to transcribed regions and 10-bp flanking exons
Phy-Mer: Mitochondrial haplogroup classification
Heteroplasmy calculation
Add link to all variants, genes, HPO and OMIM entries
Create pseudo patient record in MSeqDR Patient Registry

Exomiser Settings:

  e.g. OMIM:252010