Journal
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
Volume 20, Issue 5-6, Pages 432-440Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1080/21678421.2019.1606244
Keywords
Databrowser; amyotrophic lateral sclerosis; whole-genome sequencing; open-access
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Funding
- NINDS NIH HHS [R01 NS073873] Funding Source: Medline
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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.
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