Motivation: Clinical applications of genome re­sequencing 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. Results: In 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.

VINYL: Variant prIoritizatioN bY survivaL analysis / M. Chiara, P. Mandreoli, M.A. Tangaro, A.M. D’Erchia, S. Sorrentino, C. Forleo, D.S. Horner, F. Zambelli, G. Pesole. - (2020 Jan 24). [10.1101/2020.01.23.917229]

VINYL: Variant prIoritizatioN bY survivaL analysis

M. Chiara
Primo
;
P. Mandreoli;D.S. Horner;F. Zambelli;
2020

Abstract

Motivation: Clinical applications of genome re­sequencing 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. Results: In 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.
No
English
Settore BIO/11 - Biologia Molecolare
Ricerca di base
24-gen-2020
22
https://www.biorxiv.org/content/10.1101/2020.01.23.917229v1
Aderisco
298
9
VINYL: Variant prIoritizatioN bY survivaL analysis / M. Chiara, P. Mandreoli, M.A. Tangaro, A.M. D’Erchia, S. Sorrentino, C. Forleo, D.S. Horner, F. Zambelli, G. Pesole. - (2020 Jan 24). [10.1101/2020.01.23.917229]
Prodotti della ricerca::24 - Pre-print
M. Chiara, P. Mandreoli, M.A. Tangaro, A.M. D’Erchia, S. Sorrentino, C. Forleo, D.S. Horner, F. Zambelli, G. Pesole
open
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info:eu-repo/semantics/article
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/720018
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