Monogenic – Data Analysis Working Group
The Data Analysis working group carries out core analyses to identify the genetic basis of monogenic forms of Parkinson’s disease.
About the Monogenic – Data Analysis Working Group
This Working Group executes and coordinates core genetic analyses to identify the genetic basis of monogenic forms of Parkinson’s disease in close collaboration with the sample providers.
This group analyzes genotyping and whole-genome sequencing data obtained from the collected samples and families in close collaboration with the sample providers in order to identify known and novel monogenic causes of the disease. They also aim to develop population specific reference genomes that will improve the detection of population-specific risk factors.
Milestones
Completed
- The bioinformatic workflow for identifying known and novel repeat expansions
- The bioinformatic workflow for structural variant joint calling
Active
- Analysis strategies for monogenic data
- The family-based whole-genome data analysis workflows
- Rare-variant association analyses (coding and non-coding variants)
- Long-read whole genome sequencing for unsolved early-onset patients and patients with a positive family history
- Analysis of expanded panel of genes linked to monogenic parkinsonism
- Interaction of mitochondrial genes, mitochondrial DNA and environment on age at onset in Parkinson’s disease