Article

Whole-exome analysis in Parkinson’s disease reveals a high burden of ultra rare variants in early onset cases

2020-06-06

Abstract excerpt

<h4>ABSTRACT</h4> Parkinson’s disease (PD) is a complex neurodegenerative disorder with a strong genetic component. We performed a “hypothesis-free” exome-wide burden-based analysis of different variant frequencies, predicted functional impact and age of onset classes, in order to expand the understanding of rare variants in PD. Analyzing whole-exome data from a total of 1,425 PD cases and 596 controls, we found...

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Literature Corpus work: 582859fc-612a-57f6-aa3d-ecc867010978
DOI: 10.1101/2020.06.06.137299

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