VINYL (Variant PrIoritizatioN by survivaL analysis) is a bioinformatics workflow for the functional annotation and prioritization of genetics variants in clinical studies. VINYL is implemented as a collection of Perl and R scripts composed by 3 main modules: the optimizer, which computes the best scoring system; the threshold, which optimizer derives the optimal score cut off and the score calculator, which computes the pathogenicity score by integrating different types of annotation.
VINYL is distributed as Galaxy Public server developed on Laniakea or it is available through Laniakea to deploy a personal server.
The paper has been published on Bioinformatics and is available here.
The paper can be cited as:
Matteo Chiara, Pietro Mandreoli, Marco Antonio Tangaro, Anna Maria D’Erchia, Sandro Sorrentino, Cinzia Forleo, David S Horner, Federico Zambelli, Graziano Pesole, VINYL: Variant prIoritizatioN by survivaL analysis, Bioinformatics, btaa1067, https://doi.org/10.1093/bioinformatics/btaa1067