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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 databrowser (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.

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1009240
Subject
Amyotrophic lateral sclerosis;
Researchers;
Genomes;
Neurodegenerative diseases;
Genetic diversity;
Transcription
URL
https://www.biorxiv.org/content/early/2018/09/27/377911
Title
The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Author
Rick A A Van Der Spek; Wouter Van Rheenen; Pulit, Sara L; Kenna, Kevin P; Mclaughlin, Russell L; Moisse, Matthieu; Dekker, Annelot M; Tazelaar, Gijs H P; Kenna, Brendan; Van Eijk, Kristel R; Joke J F A Van Vugt; Perry Tc Van Doormaal; Middelkoop, Bas; Schellevis, Raymond D; Brands, William J; Byrne, Ross; Cooper-Knock, Johnathan; Ahmad Al Khleifat; Campos, Yolanda; Atay Vural; Glass, Jonathan D; Iacoangeli, Alfredo; Shatunov, Aleksey; Sproviero, William; Kavak, Ersen; Seker, Tuncay; Akcimen, Fulya; Kocoglu, Cemile; Tunca, Ceren; Ticozzi, Nicola; Kooyman, Maarten; Redondo, Alberto G; Blair, Ian; Wray, Naomi R; Kiernan, Matthew C; Mamede De Carvalho; Drory, Vivian; Gotkine, Marc; Andersen, Peter M; Corcia, Phillipe; Couratier, Phillipe; Fominyh, Vera; Zatz, Mayana; Mitne-Neto, Miguel; Chio, Adriano; Silani, Vincenzo; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Weber, Markus; Rouleau, Guy; Dupre, Nicolas; Mackenzie, Ian; Rogaeva, Ekaterina; Miltenberger-Miltenyi, Gabriel; Brylev, Lev; Bilic, Ervina; Munitic, Ivana; Victoria Lopez Alonso; Morrison, Karen E; Newhouse, Stephan; Mill, Johnathan; Shaw, Pamela J; Shaw, Christopher E; Panades, Monica P; Mora, Jesus S; Robberecht, Wim; Philip Van Damme; Basak, Nazli; Hardiman, Orla; Van Es, Michael A; Al-Chalabi, Ammar; Landers, John E; Leonard H Van Den Berg; Veldink, Jan H
Publication title
bioRxiv; Cold Spring Harbor
Publication year
2018
Publication date
Sep 27, 2018
Section
New Results
Publisher
Cold Spring Harbor Laboratory Press
Source
BioRxiv
Place of publication
Cold Spring Harbor
Country of publication
United States
University/institution
Cold Spring Harbor Laboratory Press
Publication subject
Biology
ISSN
2692-8205
Source type
Working Paper
Language of publication
English
Document type
Working Paper
Publication history
 
 
Online publication date
2018-09-27
Milestone dates
2018-07-26 (older version); 2018-07-30 (older version)
Publication history
 
 
   First posting date
27 Sep 2018
DOI
https://doi.org/10.1101/377911
ProQuest document ID
2076575602
Document URL
https://www.proquest.com/working-papers/project-mine-databrowser-bringing-large-scale/docview/2076575602/se-2?accountid=208611
Full text outside of ProQuest
https://www.biorxiv.org/content/early/2018/09/27/377911
Copyright
�� 2018. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (���the License���). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Last updated
2019-09-26
Database
ProQuest One Academic