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

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Detalles Bibliográficos
Publicado en:	bioRxiv (Sep 27, 2018), p. n/a
Autor principal:	Rick A A Van Der Spek
Otros Autores:	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
Publicado:	Cold Spring Harbor Laboratory Press
Materias:	Amyotrophic lateral sclerosis Researchers Genomes Neurodegenerative diseases Genetic diversity Transcription
Acceso en línea:	Citation/Abstract Full text outside of ProQuest
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Descripción
Resumen:	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
ISSN:	2692-8205
DOI:	10.1101/377911
Fuente:	Biological Science Database