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

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Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting one 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 7500 controls at 30× 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 4366 ALS cases and 1832 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.

Original languageEnglish
Pages (from-to)432-440
Number of pages9
JournalAmyotrophic Lateral Sclerosis & Frontotemporal Degeneration
Volume20
Issue number5-6
DOIs
Publication statusPublished - Aug 2019

Keywords

  • Access to Information
  • Amyotrophic Lateral Sclerosis/diagnosis
  • Biomedical Research/methods
  • Data Mining/methods
  • Humans
  • Mutation, Missense/genetics
  • Polymorphism, Single Nucleotide/genetics
  • Whole Genome Sequencing/methods
  • whole-genome sequencing
  • Databrowser
  • open-access
  • amyotrophic lateral sclerosis

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