Taylor & Francis Group
Browse
iafd_a_1606244_sm5246.docx (3 MB)

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

Download (3 MB)
journal contribution
posted on 2019-07-08, 07:47 authored by Rick A.A. van der Spek, Wouter van Rheenen, Sara L. Pulit, Kevin P. Kenna, Leonard H. van den Berg, Jan H. Veldink

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.

Funding

This project has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 Research and Innovation Program [grant agreement no. 772376 – EScORIAL].

History