Excess of singleton loss-of-function variants in Parkinson's disease contributes to genetic risk.
Dheeraj Reddy BobbiliPeter BandaRejko KrügerPatrick MayPublished in: Journal of medical genetics (2020)
The main finding of this study is to highlight the contribution of singleton loss-of-function variants to the complex genetics of PD and that disease risk prediction models combining singleton and common variants can improve models built solely on common variants.