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.

VINYL: Variant prIoritizatioN by survivaL analysis

Tangaro, Marco Antonio;D'Erchia, Anna Maria;Sorrentino, Sandro;Forleo, Cinzia;Pesole, Graziano
2020-01-01

Abstract

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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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11586/350787
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