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ZENODO
Presentation . 2022
License: CC BY
Data sources: Datacite
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Presentation . 2022
License: CC BY
Data sources: Datacite
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Other literature type . 2022
License: CC BY
Data sources: ZENODO
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Using nanopore sequencing in Parkinson's disease (GBA)

descriptionPublicationkeyboard_double_arrow_right Presentation , Other literature type 13 Jun 2022Publisher:Zenodo
Authors: Christos Proukakis; Marco Toffoli;

doi: 10.5281/zenodo.6640149 , 10.5281/zenodo.6640150

Using nanopore sequencing in Parkinson's disease (GBA)

Abstract

The GBA gene is important in PD, but analysis is complex due to the nearby pseudogene, and variants arising by recombination are frequently missed. We present two complementary methods to resolve all variants: targeted long read (Nanopore) sequencing, and Gauchian, an algorithm for dedicated analysis of short read (Illumina) whole genome sequencing. We used PPMI samples to validate Gauchian findings in existing WGS data from AMP-PD. We noted some errors in the AMP-PD analysis, which we discuss in detail in our paper https://www.medrxiv.org/content/10.1101/2021.11.12.21266253v1

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Keywords

long read sequencing, structural variants, GBA

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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