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.