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

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting one 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 7500 controls at 30× coverage. Here, we presen...

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Autores principales: VAN DER SPEK, RICK A.A., VAN RHEENEN, WOUTER, PULIT, SARA L., KENNA, KEVIN P., VAN DEN BERG, LEONARD H., VELDINK, JAN H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893599/
https://www.ncbi.nlm.nih.gov/pubmed/31280677
http://dx.doi.org/10.1080/21678421.2019.1606244
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author VAN DER SPEK, RICK A.A.
VAN RHEENEN, WOUTER
PULIT, SARA L.
KENNA, KEVIN P.
VAN DEN BERG, LEONARD H.
VELDINK, JAN H.
author_facet VAN DER SPEK, RICK A.A.
VAN RHEENEN, WOUTER
PULIT, SARA L.
KENNA, KEVIN P.
VAN DEN BERG, LEONARD H.
VELDINK, JAN H.
author_sort VAN DER SPEK, RICK A.A.
collection PubMed
description Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting one 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 7500 controls at 30× 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 4366 ALS cases and 1832 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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spelling pubmed-78935992021-02-19 The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public VAN DER SPEK, RICK A.A. VAN RHEENEN, WOUTER PULIT, SARA L. KENNA, KEVIN P. VAN DEN BERG, LEONARD H. VELDINK, JAN H. Amyotroph Lateral Scler Frontotemporal Degener Article Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting one 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 7500 controls at 30× 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 4366 ALS cases and 1832 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. 2019-08 /pmc/articles/PMC7893599/ /pubmed/31280677 http://dx.doi.org/10.1080/21678421.2019.1606244 Text en http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.
spellingShingle Article
VAN DER SPEK, RICK A.A.
VAN RHEENEN, WOUTER
PULIT, SARA L.
KENNA, KEVIN P.
VAN DEN BERG, LEONARD H.
VELDINK, JAN H.
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
title The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
title_full The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
title_fullStr The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
title_full_unstemmed The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
title_short The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
title_sort project mine databrowser: bringing large-scale whole-genome sequencing in als to researchers and the public
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893599/
https://www.ncbi.nlm.nih.gov/pubmed/31280677
http://dx.doi.org/10.1080/21678421.2019.1606244
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