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 Project MinE ALS Sequencing Consortium
A1 Rick A.A. van der Spek
A1 Wouter Van Rheenen
A1 Sara L. Pulit
A1 Kevin P. Kenna
A1 Russell L. McLaughlin
A1 Matthieu Moisse
A1 Annelot M. Dekker
A1 Gijs H.P. Tazelaar
A1 Brendan Kenna
A1 Kristel R. Van Eijk
A1 Joke J.F.A. Van Vugt
A1 Perry T.C. Van Doormaal
A1 Bas Middelkoop
A1 Raymond D. Schellevis
A1 William J. Brands
A1 Ross Byrne
A1 Johnathan Cooper-Knock
A1 Ahmad Al Khleifat
A1 Yolanda Campos
A1 Atay Vural
A1 Jonathan D. Glass
A1 Alfredo Iacoangeli
A1 Aleksey Shatunov
A1 William Sproviero
A1 Ersen Kavak
A1 Tuncay Seker
A1 Fulya Akçimen
A1 Cemile Kocoglu
A1 Ceren Tunca
A1 Nicola Ticozzi
A1 Maarten Kooyman
A1 Alberto G. Redondo
A1 Ian Blair
A1 Naomi R. Wray
A1 Matthew C. Kiernan
A1 Mamede de Carvalho
A1 Vivian Drory
A1 Marc Gotkine
A1 Peter M. Andersen
A1 Philippe Corcia
A1 Philippe Couratier
A1 Vera Fominyh
A1 Mayana Zatz
A1 Miguel Mitne-Neto
A1 Adriano Chio
A1 Vincenzo Silani
A1 Boris Rogelj
A1 Blaž Koritnik
A1 Janez Zidar
A1 Markus Weber
A1 Guy Rouleau
A1 Nicolas Dupre
A1 Ian Mackenzie
A1 Ekaterina Rogaeva
A1 Gabriel Miltenberger-Miltenyi
A1 Lev Brylev
A1 Ervina Bilić
A1 Ivana Munitic
A1 Victoria López Alonso
A1 Karen E. Morrison
A1 Stephen Newhouse
A1 Johnathan Mill
A1 Pamela J. Shaw
A1 Christopher E. Shaw
A1 Monica P. Panades
A1 Jesus S. Mora
A1 Wim Robberecht
A1 Philip Van Damme
A1 A. Nazli Basak
A1 Orla Hardiman
A1 Michael A. Van Es
A1 Ammar Al-Chalabi
A1 John E. Landers
A1 Leonard H. Van den Berg
A1 Jan H. Veldink
YR 2018
UL http://biorxiv.org/content/early/2018/07/30/377911.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.