The project MinE databrowser: bringing large- scale whole-genome sequencing in ALS to researchers and the public (CROSBI ID 288892)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
van der Spek, Rick A.A. ; van Rheenen, Wouter ; Pulit, Sara L. ; Kenna, Kevin P. ; van den Berg, Leonard H. ; Veldink, Jan H.
engleski
The project MinE databrowser: bringing large- scale whole-genome sequencing in ALS to researchers and the public
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.
Databrowser ; amyotrophic lateral sclerosis ; whole-genome sequencing ; open-access
Appendix A: Project MinE ALS Sequencing Consortium - popis sudionika projekta, jedna od sudionica je Ivana Munitić.
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Podaci o izdanju
20 (5-6)
2019.
432-440
objavljeno
2167-8421
2167-9223
10.1080/21678421.2019.1606244
Povezanost rada
Biotehnologija u biomedicini (prirodno područje, biomedicina i zdravstvo, biotehničko područje), Kliničke medicinske znanosti, Računarstvo, Temeljne medicinske znanosti