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
ClinVar style variant submission and curation system version 2 is released MSeqDR mvTool Documentation
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- Recent publications from MSeqDR supported by the UMDF and NIH grants
- ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen