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The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

Project MinE ALS Sequencing Consortium
doi: https://doi.org/10.1101/377911
1Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands
  • For correspondence: J.H.Veldink@umcutrecht.nl
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Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting 1 in 350 people. The aim of Project MinE is to elucidate the pathophysiology of ALS through whole-genome sequencing at least 15,000 ALS patients and 7,500 controls at 30X coverage. Here, we present the Project MinE data browser (databrowser.projectmine.com). a unique and intuitive one-stop, open-access server that provides detailed information on genetic variation analyzed in a new and still growing set of 4,366 ALS cases and 1,832 matched controls. Through its visual components and interactive design, the browser specifically aims to be a resource to those without a biostatistics background and allow clinicians and preclinical researchers to integrate Project MinE data into their own research. The browser allows users to query a transcript and immediately access a unique combination of detailed (meta)data, annotations and association statistics that would otherwise require analytic expertise and visits to scattered resources.

Footnotes

  • ↵# A full list of Project MinE GWAS Consortium members appears at the end of the paper.

  • ↵# shared first

  • ↵§ shared last

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.
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Posted January 28, 2019.
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The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Project MinE ALS Sequencing Consortium
bioRxiv 377911; doi: https://doi.org/10.1101/377911
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The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Project MinE ALS Sequencing Consortium
bioRxiv 377911; doi: https://doi.org/10.1101/377911

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