The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.
Rick A A van der SpekWouter Van RheenenSara L PulitKevin P KennaLeonard H Van Den BergJan Herman Veldinknull nullPublished in: Amyotrophic lateral sclerosis & frontotemporal degeneration (2020)
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.
Keyphrases
- amyotrophic lateral sclerosis
- quality improvement
- electronic health record
- end stage renal disease
- big data
- healthcare
- newly diagnosed
- chronic kidney disease
- multiple sclerosis
- ejection fraction
- minimally invasive
- prognostic factors
- peritoneal dialysis
- machine learning
- emergency department
- patient reported outcomes
- deep learning
- health insurance
- artificial intelligence