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

• Published in: bioRxiv
• Main Authors: 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
• Format: Paper
• Language: English
• Published: Cold Spring Harbor Cold Spring Harbor Laboratory Press 27.09.2018
• Subjects: Amyotrophic lateral sclerosis; Genetic diversity; Genomes; Neurodegenerative diseases; Researchers; Transcription
• DOI: 10.1101/377911

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. Footnotes * Format