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

被引:50
作者
van der Spek, Rick A. A. [1 ]
van Rheenen, Wouter [1 ]
Pulit, Sara L. [2 ]
Kenna, Kevin P. [1 ]
van den Berg, Leonard H. [1 ]
Veldink, Jan H. [1 ]
机构
[1] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol, Utrecht, Netherlands
[2] Univ Med Ctr Utrecht, Ctr Mol Med, Dept Med Genet, Utrecht, Netherlands
关键词
Databrowser; amyotrophic lateral sclerosis; whole-genome sequencing; open-access; ANALYSES IDENTIFY; DATABASE; VARIANTS; ASSOCIATION; REGRESSION; MUTATIONS;
D O I
10.1080/21678421.2019.1606244
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 30x coverage. Here, we present the Project MinE data browser (), 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.
引用
收藏
页码:432 / 440
页数:9
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