VINYL: Variant prIoritizatioN bY survivaL analysis
Author(s) -
Matteo Chiara,
Pietro Mandreoli,
M. A. Tangaro,
Anna Maria D’Erchia,
Sandro Sorrentino,
Cinzia Forleo,
David S. Horner,
Federico Zambelli,
Graziano Pesole
Publication year - 2020
Publication title -
bioinformatics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btaa1067
Subject(s) - prioritization , context (archaeology) , computer science , annotation , genomics , computational biology , genome , artificial intelligence , biology , genetics , management science , gene , engineering , paleontology
Clinical applications of genome re-sequencing technologies typically generate large amounts of data that need to be carefully annotated and interpreted to identify genetic variants potentially associated with pathological conditions. In this context, accurate and reproducible methods for the functional annotation and prioritization of genetic variants are of fundamental importance.
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