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

Autori
Van der Spek, Rick A.A. ; van Rheenen, Wouter ; Pulit, Sara L. ; Kenna, Kevin P. ; van den Berg, Leonard H. ; Veldink, Jan H.

Izvornik
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2167-8421) 20 (2019), 5-6; 432-440

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Databrowser ; amyotrophic lateral sclerosis ; whole-genome sequencing ; open-access

Sažetak
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 (databrowser.project- mine.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 associ- ation statistics that would otherwise require analytic expertise and visits to scattered resources.

Izvorni jezik
Engleski

Znanstvena područja
Računarstvo, Temeljne medicinske znanosti, Kliničke medicinske znanosti, Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje)

Napomena
Appendix A: Project MinE ALS Sequencing Consortium
- popis sudionika projekta, jedna od sudionica je
Ivana Munitić.

POVEZANOST RADA