Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

doi:10.1186/s13059-017-1147-9

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Article

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Genome biology - 30 Jan 2017

Jansen Iris E, Ye Hui, Heetveld Sasja, Lechler Marie C, Michels Helen, Seinstra Renée I, Lubbe Steven J, Drouet Valérie, Lesage Suzanne, Majounie Elisa, Gibbs J Raphael, Nalls Mike A, Ryten Mina, Botia Juan A, Vandrovcova Jana, Simon-Sanchez Javier, Castillo-Lizardo Melissa, Rizzu Patrizia, Blauwendraat Cornelis, Chouhan Amit K, Li Yarong, Yogi Puja, Amin Najaf, van Duijn Cornelia M, Morris Huw R, Brice Alexis, Singleton Andrew B, David Della C, Nollen Ellen A, Jain Shushant, Shulman Joshua M, Heutink Peter

Abstract excerpt

BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we performed WES in 1148 unrelated cases and 503 control participants. Candidate genes were subsequently validated for functions relevant...

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PMID: 28137300
DOI: 10.1186/s13059-017-1147-9
PMCID: PMC5282828

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