TY - JOUR
T1 - The project MinE databrowser
T2 - bringing large-scale whole-genome sequencing in ALS to researchers and the public
AU - Project MinE ALS Sequencing Consortium
AU - van der Spek, Rick A A
AU - van Rheenen, Wouter
AU - Pulit, Sara L
AU - Kenna, Kevin P
AU - van den Berg, Leonard H
AU - Veldink, Jan H
AU - Gotkine, Marc
PY - 2019/8
Y1 - 2019/8
N2 - 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.
AB - 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.
KW - Access to Information
KW - Amyotrophic Lateral Sclerosis/diagnosis
KW - Biomedical Research/methods
KW - Data Mining/methods
KW - Humans
KW - Mutation, Missense/genetics
KW - Polymorphism, Single Nucleotide/genetics
KW - Whole Genome Sequencing/methods
U2 - 10.1080/21678421.2019.1606244
DO - 10.1080/21678421.2019.1606244
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C2 - 31280677
SN - 2167-8421
VL - 20
SP - 432
EP - 440
JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
JF - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
IS - 5-6
ER -