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Monogenic – Data Analysis Working Group
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
Active
- Analysis strategies for monogenic data
- Rare-variant association analyses (coding and non-coding variants)
Completed
- The family-based whole-genome data analysis workflows
- The bioinformatic workflow for identifying known and novel repeat expansions
- The bioinformatic workflow for structural variant joint calling
Not Started
- The anaylses of Mitochondrial DNA variants