Monogenic - Sample Prioritization Working Group
The Sample Prioritization Group is one of the three working groups making up the Monogenic Hub. Our working group goal is to prioritize samples for the Monogenic Hub in a manner that is fair and democratic.
We are prioritizing cases where a monogenic cause of Parkinson’s disease (PD) is strongly suspected. Multiple factors will be considered, including prior genetic testing with a negative result, number of affected samples available per family, availability of samples from both non-affected parents, age at PD onset, and consanguinity. We are using scoring criteria with this aim in mind. As a guide, a link to the table used for prioritisation scoring can be found here.
By focusing on samples with a high chance of a monogenic cause, we hope to increase the likelihood of discovering new PD genes. We also hope to gather samples from across the world and include patients from underrepresented populations.
Progress so far
- Created scoring method for prioritization of monogenic samples
- Created network for WGS pilot phase (500 WGS)
- Received 752 submissions from which to select samples for the first round of 500 WGS (phase 1)
Remaining Year 1 Goals
- Selecting samples for WGS phase 1 using developed scoring method
- Develop scalable outreach strategy for phase 2