Quick-Mitome is updated with Exomiser V10.1, ID de-identification, WES and WGS data support
September 24, 2018 Dr. Lishuang SHEN 0
Quick-Mitome – Semi-automatic Interpretation System is updated with Exomiser V10.10, ClinVar 2018.10 release and HPO 2018.07 release.
The Quick-Mitome automatic interpretation system conducts interpretation on 5 inheritance modes: AD, AR, XD, XR, Mitochondrial.
Exomiser v10.1 makes it possible to do both WES and WGS data interpretations. WGS data interpretations takes less than 30 minutes in internal testing and will be open for public users shortly.
Quick-Mitome Report summarises Exomiser ranking and MSeqDR full annotation result with intensive data source cross-referencing.
The input sample name or case names are always converted to de-identified MSeqDR ID (MSxxxxxxx) to protect privacy. The mapping is only known to the original submitter and hidden from other users. Pseudo case record is automatically created along with captured HPO data.
Categories: MSeqDr.org News, updates, media report
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen
- MSeqDr joins FAIRsharing – A curated, informative and educational resource on data and metadata standards
- Quick-Mitome version 2 with new annotations, workflow, and tutorial
- Mondo Disease Ontology is coming to MSeqDR
- Disease Portal for mitochondrial diseases received more disease entries
- MSeqDR to present tutorial workshop for the 5th year on June 29, at the UMDF Mitochondrial Medicine Symposium
- mvTool v3: Added variant data from 40,000 people, Asians and Sadinians, meta-AF reference, new single variant report
- Leigh Syndrome Resources at MSeqDR.org
- MSeqDR’s ClinVar style variant submission system supports ClinVar template v4.2 (2018.08)
- MSeqDR mvTool Documentation