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

Збережено в:
Опубліковано в::bioRxiv (Sep 27, 2018), p. n/a
Автор: Rick A A Van Der Spek
Інші автори: 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
Опубліковано:
Cold Spring Harbor Laboratory Press
Предмети:
Amyotrophic lateral sclerosis
Researchers
Genomes
Neurodegenerative diseases
Genetic diversity
Transcription
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Full text outside of ProQuest
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MARC

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022 |a 2692-8205 
024 7 |a 10.1101/377911  |2 doi 
035 |a 2076575602 
045 0 |b d20180927 
100 1 |a Rick A A Van Der Spek 
245 1 |a The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public 
260 |b Cold Spring Harbor Laboratory Press  |c Sep 27, 2018 
513 |a Working Paper 
520 3 |a 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 
653 |a Amyotrophic lateral sclerosis 
653 |a Researchers 
653 |a Genomes 
653 |a Neurodegenerative diseases 
653 |a Genetic diversity 
653 |a Transcription 
700 1 |a Wouter Van Rheenen 
700 1 |a Pulit, Sara L 
700 1 |a Kenna, Kevin P 
700 1 |a Mclaughlin, Russell L 
700 1 |a Moisse, Matthieu 
700 1 |a Dekker, Annelot M 
700 1 |a Tazelaar, Gijs H P 
700 1 |a Kenna, Brendan 
700 1 |a Van Eijk, Kristel R 
700 1 |a Joke J F A Van Vugt 
700 1 |a Perry Tc Van Doormaal 
700 1 |a Middelkoop, Bas 
700 1 |a Schellevis, Raymond D 
700 1 |a Brands, William J 
700 1 |a Byrne, Ross 
700 1 |a Cooper-Knock, Johnathan 
700 1 |a Ahmad Al Khleifat 
700 1 |a Campos, Yolanda 
700 1 |a Atay Vural 
700 1 |a Glass, Jonathan D 
700 1 |a Iacoangeli, Alfredo 
700 1 |a Shatunov, Aleksey 
700 1 |a Sproviero, William 
700 1 |a Kavak, Ersen 
700 1 |a Seker, Tuncay 
700 1 |a Akcimen, Fulya 
700 1 |a Kocoglu, Cemile 
700 1 |a Tunca, Ceren 
700 1 |a Ticozzi, Nicola 
700 1 |a Kooyman, Maarten 
700 1 |a Redondo, Alberto G 
700 1 |a Blair, Ian 
700 1 |a Wray, Naomi R 
700 1 |a Kiernan, Matthew C 
700 1 |a Mamede De Carvalho 
700 1 |a Drory, Vivian 
700 1 |a Gotkine, Marc 
700 1 |a Andersen, Peter M 
700 1 |a Corcia, Phillipe 
700 1 |a Couratier, Phillipe 
700 1 |a Fominyh, Vera 
700 1 |a Zatz, Mayana 
700 1 |a Mitne-Neto, Miguel 
700 1 |a Chio, Adriano 
700 1 |a Silani, Vincenzo 
700 1 |a Rogelj, Boris 
700 1 |a Koritnik, Blaz 
700 1 |a Zidar, Janez 
700 1 |a Weber, Markus 
700 1 |a Rouleau, Guy 
700 1 |a Dupre, Nicolas 
700 1 |a Mackenzie, Ian 
700 1 |a Rogaeva, Ekaterina 
700 1 |a Miltenberger-Miltenyi, Gabriel 
700 1 |a Brylev, Lev 
700 1 |a Bilic, Ervina 
700 1 |a Munitic, Ivana 
700 1 |a Victoria Lopez Alonso 
700 1 |a Morrison, Karen E 
700 1 |a Newhouse, Stephan 
700 1 |a Mill, Johnathan 
700 1 |a Shaw, Pamela J 
700 1 |a Shaw, Christopher E 
700 1 |a Panades, Monica P 
700 1 |a Mora, Jesus S 
700 1 |a Robberecht, Wim 
700 1 |a Philip Van Damme 
700 1 |a Basak, Nazli 
700 1 |a Hardiman, Orla 
700 1 |a Van Es, Michael A 
700 1 |a Al-Chalabi, Ammar 
700 1 |a Landers, John E 
700 1 |a Leonard H Van Den Berg 
700 1 |a Veldink, Jan H 
773 0 |t bioRxiv  |g (Sep 27, 2018), p. n/a 
786 0 |d ProQuest  |t Biological Science Database 
856 4 1 |3 Citation/Abstract  |u https://www.proquest.com/docview/2076575602/abstract/embedded/7BTGNMKEMPT1V9Z2?source=fedsrch 
856 4 0 |3 Full text outside of ProQuest  |u https://www.biorxiv.org/content/early/2018/09/27/377911