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

van der Spek, R. A. A.; van Rheenen, W.; Pulit, S. L.; Kenna, K. P.; McLaughlin, R. L.; Moisse, M.; Dekker, A. M.; Tazelaar, G. H. P.; Kenna, B.; van Eijk, K. R.; van Vugt, J. J. F. A.; van Doormaal, P. T. C.; Middelkoop, B.; Schellevis, R. D.; Brands, W. J.; Byrne, R.; Cooper-Knock, J.; Al Khleifat, A.; Campos, Y.; Vural, A.; Glass, J. D.; Iacoangeli, A.; Shatunov, A.; Sproviero, W.; Kavak, E.; Seker, T.; Akcimen, F.; Kocoglu, C.; Tunca, C.; Ticozzi, N.; Kooyman, M.; Redondo, A. G.; Blair, I.; Wray, N. R.; Kiernan, M. C.; de Carvalho, M.; Drory, V.; Gotkine, M.; Andersen, P. M.; Corcia, P.; C

doi:10.1101/377911

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bioRxiv · 10.1101/377911

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

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Abstract

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease affecting 1 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 7,500 controls at 30X 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 4,366 ALS cases and 1,832 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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van der Spek, R. A. A., van Rheenen, W., Pulit, S. L., Kenna, K. P., McLaughlin, R. L., Moisse, M., Dekker, A. M., Tazelaar, G. H. P., Kenna, B., van Eijk, K. R., van Vugt, J. J. F. A., van Doormaal, P. T. C., Middelkoop, B., Schellevis, R. D., Brands, W. J., Byrne, R., Cooper-Knock, J., Al Khleifat, A., Campos, Y., Vural, A., Glass, J. D., Iacoangeli, A., Shatunov, A., Sproviero, W., Kavak, E., Seker, T., Akcimen, F., Kocoglu, C., Tunca, C., Ticozzi, N., Kooyman, M., Redondo, A. G., Blair, I., Wray, N. R., Kiernan, M. C., de Carvalho, M., Drory, V., Gotkine, M., Andersen, P. M., Corcia, P., C. 2018-07-26. The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.. https://doi.org/10.1101/377911

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