Curating Evidence for Gene:Disease Validity for Clincial Omics

Submitted by editor on Mon, 02/25/2019 - 09:01

2:00 - 4:00 pm
Venue tbc
Rebecca Foulger

Members of the Gene Curation Coalition (GenCC) will lead a set of exercises and group discussions on curating and assessing gene-disease validity. An interactive tutorial will be given on PanelApp, the crowdsourcing platform used by Genomics England for gene panels. Introductions to the databases and curation efforts from the other GenCC members including ClinGen will also be provided. The process and results of a survey carried out by the GenCC to create a standardised terminology to define the evidence base for a gene’s role in disease will also be presented.