VP Help

Variant Prioritization Feature Help Documentation

Table of Contents

1. Introduction
2. Access
3. VP Searches
4. The Filter View
5. Filters
6. Columns
7. The VP Data Pipeline
8. Data Output
9. Saving Searches
10. Loading Searches

1. Introduction

The Variant Prioritization (VP) is a VCI feature requested by ClinGen Expert Panels curating variants to enable the discovery of prioritized variants for curation through filtering on select variant evidence data. Ultimately we plan that the VP will also support the sorting, updating and batch transfer of prioritized variants for curation at a larger scale within the VCI.

2. Access

Any user with an active curation interface login can access the VP. The VP can be accessed from both the demo/test interface and the production interface. Select VP features for saving searches are restricted to users logged in as an affiliation.

To access the VP from within the interfaces, click on the “Variant Prioritization” button in the top right of the screen.

3. VP Searches

Searches on the VP are currently based on the HGNC gene name. A list of all supported genes is displayed under the search bar on the search page. The VP will return all variants for the given gene identified to ClinGen’s Allele Registry, along with their associated data. This search process may take a few minutes.