RT Journal Article
SR Electronic
T1 The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 377911
DO 10.1101/377911
A1 ,
YR 2019
UL http://biorxiv.org/content/early/2019/01/28/377911.abstract
AB Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting 1 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 7,500 controls at 30X 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 4,366 ALS cases and 1,832 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.