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bioRxiv · 10.1101/2020.01.23.917229

VINYL: Variant prIoritizatioN bY survivaL analysis

Chiara, M.·Mandreoli, P.·Tangaro, M. A.·D'Erchia, A. M.·Sorrentino, S.·Forleo, C.·Horner, D. S.·Zambelli, F.·Pesole, G.
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Abstract

MotivationClinical applications of genome re-sequencing technologies typically generate large amounts of data that need to be carefully annotated and interpreted to identify genetic variants associated with pathological conditions. In this context, accurate and reproducible methods for the functional annotation and prioritization of genetic variants are of fundamental importance, especially when large volumes of data - like those produced by modern sequencing technologies - are involved. ResultsIn this paper, we present VINYL, a highly accurate and fully automated system for the functional annotation and prioritization of genetic variants in large scale clinical studies. Extensive analyses of both real and simulated datasets suggest that VINYL show higher accuracy and sensitivity when compared to equivalent state of the art methods, allowing the rapid and systematic identification of potentially pathogenic variants in different experimental settings.

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Chiara, M., Mandreoli, P., Tangaro, M. A., D'Erchia, A. M., Sorrentino, S., Forleo, C., Horner, D. S., Zambelli, F., Pesole, G.. 2020-01-24. VINYL: Variant prIoritizatioN bY survivaL analysis. https://doi.org/10.1101/2020.01.23.917229

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