Mutualisation des compétences et des équipements français
pour l’analyse génomique et la bio-informatique

Accueil > Grands Projets > resume projet > WGSEQ-PD


Our main objective is to develop a robust reference panel of sequence data to be followed by subsequent imputations and association analysis. It relies on both whole-genome and whole-exome sequence data for a total of 600 PD cases and 50 controls. Depending on some clinical characteristics (disease severity and/or a positive family history) of PD, variants may not all have same prior probabilities of influencing disease susceptibility. First, we postulated that PD risk in patients with a young age of onset is more likely to be explained by variants located in coding regions. Second, since our current knowledge on the functional consequences for different kinds of variants is still poor, we postulated that variants located in non-coding regions can explain PD risk, especially in familial cases. Altogether, by combing a less (whole-exome) and more (whole-genome) expensive sequencing study in PD cases, selected on different criteria, this strategy allows us to end up with an as much as possible large sample of sequenced genomes drawn from the French population. Note that this process will produce a large spectrum of association data and therefore provide more insights into the overall genetic architecture of PD. Our second objective is also to follow-up all the so far identified and novel PD risk loci.