The Project MinE data browser: bringing whole-genome sequencing data in ALS to researchers and the public

author: Rick A. A. van der Spek, University Medical Center Utrecht, Utrecht University
published: July 21, 2017,   recorded: May 2017,   views: 8
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Project MinE is an international collaboration with the aim of whole-genome sequencing 15,000 amyotrophic lateral sclerosis (ALS) patients and 7,500 controls at 30x coverage. The data generated by Project MinE currently comprises > 6,500 whole-genomes, and is highly relevant for ALS-specific research. Additionally, the data generated by Project MinE will provide both clinical and research geneticists with a large-scale resource. With the aim of making this resource publicly-accessible, we have created the Project MinE data browser (databrowser.projectmine.com), an openaccess server containing currently available Project MinE data and summary statistics from previous published studies. The data browser, based on R shiny, offers fast and easy access to all genetic variation (both common and rare) observed in Project MinE, allele frequency information in cases and controls drawn from Europe and the US, genic association testing results, functional annotation, and integration with publically available gene expression profiles (GTEX). One can simply enter a gene and view depth of coverage, burdentests, gene expression profile and variant information in a single page. Through its visual components and interactive design, the browser specifically aims to help those without a biostatistics background to integrate Project MinE data into their own research. The browser will continue to grow as Project MinE does, and in the future will include integration with the Allen Human Brain Atlas, ExAC/gnomAD and Varsome.

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