Article

Somatic mutations in Parkinson disease are enriched in synaptic and neuronal processes

2020-09-15

Abstract excerpt

The role of somatic mutations in complex diseases, including neurodevelopmental and neurodegenerative disorders, is becoming increasingly clear. To explore their relevance in sporadic Parkinson disease, we performed whole-exome sequencing in blood and four brain regions of ten patients. We identified 59 candidate somatic single nucleotide variants (sSNVs) through sensitive calling and extensive filtering. We valid...

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Literature Corpus work: 78393844-685d-54b0-93ec-7f5efd04ba45
DOI: 10.1101/2020.09.14.20190538

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