The Parkinson's Disease Genome-Wide Association Study Locus Browser

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The Parkinson's Disease Genome-Wide Association Study Locus Browser

Grenn, Francis P. (författare): National Institutes of Health, United States

Kim, Jonggeol J. (författare): National Institutes of Health, United States

Makarious, Mary B. (författare): National Institutes of Health, United States

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Iwaki, Hirotaka (författare): Data Tecnica International,National Institutes of Health, United States

Illarionova, Anastasia (författare): German Center for Neurodegenerative Diseases (DZNE), Bonn

Brolin, Kajsa (författare): Lund University,Lunds universitet,Translationell Neurogenetik,Forskargrupper vid Lunds universitet,Translational Neurogenetics,Lund University Research Groups

Kluss, Jillian H. (författare): National Institutes of Health, United States

Schumacher-Schuh, Artur F. (författare): Hospital de Clinicas de Porto Alegre

Leonard, Hampton (författare): Data Tecnica International,National Institutes of Health, United States

Faghri, Faraz (författare): Data Tecnica International,National Institutes of Health, United States

Billingsley, Kimberley (författare): National Institutes of Health, United States

Krohn, Lynne (författare): McGill University

Hall, Ashley (författare): University of Liverpool

Diez-Fairen, Monica (författare): Mutua De Terrassa Hospital

Periñán, Maria Teresa (författare): University Hospital Virgen del Rocío

Sandor, Cynthia (författare): Cardiff University

Webber, Caleb (författare): Cardiff University

Fiske, Brian K. (författare): The Michael J. Fox Foundation for Parkinson’s Research

Gibbs, J. Raphael (författare): National Institutes of Health, United States

Nalls, Mike A. (författare): National Institutes of Health, United States,Data Tecnica International

Singleton, Andrew B. (författare): National Institutes of Health, United States

Bandres-Ciga, Sara (författare): National Institutes of Health, United States

Reed, Xylena (författare): National Institutes of Health, United States

Blauwendraat, Cornelis (författare): National Institutes of Health, United States

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(creator_code:org_t)

2020-08-31
2020
Engelska.
Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257.

Relaterad länk:: http://dx.doi.org/10... (free); visa fler...; https://movementdiso...; https://lup.lub.lu.s...; https://doi.org/10.1...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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Background: Parkinson's disease (PD) is a neurodegenerative disease with an often complex component identifiable by genome-wide association studies. The most recent large-scale PD genome-wide association studies have identified more than 90 independent risk variants for PD risk and progression across more than 80 genomic regions. One major challenge in current genomics is the identification of the causal gene(s) and variant(s) at each genome-wide association study locus. The objective of the current study was to create a tool that would display data for relevant PD risk loci and provide guidance with the prioritization of causal genes and potential mechanisms at each locus. Methods: We included all significant genome-wide signals from multiple recent PD genome-wide association studies including themost recent PD risk genome-wide association study, age-at-onset genome-wide association study, progression genome-wide association study, and Asian population PD risk genome-wide association study. We gathered data for all genes 1 Mb up and downstream of each variant to allow users to assess which gene(s) are most associated with the variant of interest based on a set of self-ranked criteria. Multiple databases were queried for each gene to collect additional causal data. Results: We created a PD genome-wide association study browser tool (https://pdgenetics.shinyapps.io/GWASBrowser/) to assist the PD research community with the prioritization of genes for follow-up functional studies to identify potential therapeutic targets. Conclusions: Our PD genome-wide association study browser tool provides users with a useful method of identifying potential causal genes at all known PD risk loci from large-scale PD genome-wide association studies. We plan to update this tool with new relevant data as sample sizes increase and new PD risk loci are discovered.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)

Nyckelord

GWAS
Parkinson's disease
prioritization

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