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 language | English |
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Pages (from-to) | 432-440 |
Number of pages | 9 |
Journal | Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration |
Volume | 20 |
Issue number | 5-6 |
DOIs | |
State | Published - 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