Article

Accurate long-read sequencing identified GBA variants as a major genetic risk factor in the Luxembourg Parkinson’s study

2023-03-29

Abstract excerpt

Heterozygous variants in the glucocerebrosidase GBA gene are an increasingly recognized risk factor for Parkinson’s disease (PD). Due to the pseudogene GBAP1 that shares 96% sequence homology with the GBA coding region, accurate variant calling by array-based or short-read sequencing methods remains a major challenge in understanding the genetic landscape of GBA -related PD. We established a novel long-read sequen...

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Literature Corpus work: 829b906d-a12e-5546-b923-0c7fb4f908e0
DOI: 10.1101/2023.03.29.23287880

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