1. The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
- Author
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Wouter van Rheenen, Sara L. Pulit, Jan H. Veldink, Kevin P. Kenna, Leonard H. van den Berg, and Rick A.A. van der Spek
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amyotrophic lateral sclerosis ,Biomedical Research ,Scale (ratio) ,Mutation, Missense ,Computational biology ,Biology ,Polymorphism, Single Nucleotide ,Article ,Access to Information ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Data Mining ,Humans ,Amyotrophic lateral sclerosis ,Whole genome sequencing ,Whole Genome Sequencing ,Project MinE ,Databrowser ,medicine.disease ,3. Good health ,Neurology ,whole-genome sequencing ,Neurology (clinical) ,open-access ,030217 neurology & neurosurgery - 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 30x coverage. Here, we present the Project MinE data browser (databrowser.project- mine.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 associ- ation statistics that would otherwise require analytic expertise and visits to scattered resources.
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