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

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Aug;20(5-6):432-440. doi: 10.1080/21678421.2019.1606244.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Access to Information
  • Amyotrophic Lateral Sclerosis / diagnosis*
  • Amyotrophic Lateral Sclerosis / genetics*
  • Biomedical Research / methods*
  • Biomedical Research / trends
  • Data Mining / methods*
  • Data Mining / trends
  • Humans
  • Mutation, Missense / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Whole Genome Sequencing / methods*
  • Whole Genome Sequencing / trends