Version 1.0.10 (2020-07-13)
Implemented use of Criteria Specification Registry replacing the use of Genboree KB backed Guidelines and Affiliations
Renamed the Expert Panel "Storage Diseases VCEP" to "Lysosomal Storage Disorders VCEP"
Fixed several bugs in consuming VCI messages, including rejecting messages that have evidence codes without any valid statement outcomes
Version 1.0.9 (2019-07-16)
Entry/Landing page has been overhauled to include heatmap style grids for genes/conditions/expert-panels instead of the older pie-charts.
The new grids show all the data for a category instead of showing only a few genes/conditions/expert-panels with the most variants.
New download button has been added for the search results page which will dump data matching the search criteria.
Version 1.0.8 (2019-04-15)
New Download button has been added for downloading the entire repository in tab-delimited format.
The download feature is also available via API.
A new page for displaying the evidence-codes for a specific guideline has been implemented.
This page can be accessed from the variant classification page for a variant-disease pair.
Version 1.0.7 (2019-01-24)
All instances of 'interpretation' have been replaced with 'classfication'
The link to the Hearing Loss expert panel has been fixed.
Typo for Condition placeholder in the Advanced Search section has been fixed.
The Evidence Repository sign at the top right corner in the header is now clickable and takes the user to the app landing page.
The sentence: 'only variants that can be registered in the Allele Registry are supported' has been removed from the disclaimer at the top.
Version 1.0.6 (2018-12-04)
Specialized guidelines have been added such as ACMG derived guidelines for interpreting variants associated with PAH, PTEN, RASopathy, Hearing Loss and MYH7
Variant specific page now opens up a modal with the abstract of a PubMed article when clicked.
Version 1.0.5 (2018-11-15)
Support has been added to capture evidence for variants not supported by the Allele Registry.
Variants not registered in the Allele Registry are expected to have a ClinVar variation ID.
When uploading evidence for variants that are supported by the Allele Registry, the system will search for a corresponding ClinVar variation ID and store this id so that the variant becomes searchable by both accessions.
Version 1.0.4 (2018-10-25)
Variant specific page now shows additional information such as Population Allele Frequency, In-silico Prediction score, etc.
API updated to capture these evidence types.
SEPIO also updated to show these additional types of evidence.
Summary of interpretation from Expert Panel now shown on the variant specific page.
Added setting to control syncing of updates with Allele Registry.
Version 1.0.3 (2018-09-20)
Implemented searching by expert panel
Implemented clickable 'expert-panel' pie.
Version 1.0.2 (2018-07-23)
Implemented searching by assertions
Search results will now display agent and combined assertions.
Version 1.0.1 (2018-07-06)
Implemented news and version history.
Version 1.0.0 (2018-07-02)
Implemented basic and advanced search.
Implemented Gene and Condition based clickable pie-charts.