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VINYL: Variant prIoritizatioN bY survivaL analysis.
Chiara, Matteo; Mandreoli, Pietro; Tangaro, Marco Antonio; D'Erchia, Anna Maria; Sorrentino, Sandro; Forleo, Cinzia; Horner, David S; Zambelli, Federico; Pesole, Graziano.
Afiliação
  • Chiara M; Department of Biosciences, University of Milan, Milan, Italy.
  • Mandreoli P; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Council, Bari, Italy.
  • Tangaro MA; Department of Biosciences, University of Milan, Milan, Italy.
  • D'Erchia AM; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Council, Bari, Italy.
  • Sorrentino S; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Council, Bari, Italy.
  • Forleo C; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari "Aldo Moro", Bari, Italy.
  • Horner DS; Cardiology Unit, Department of Emergency and Organ Transplantation, University of Bari "Aldo Moro", Bari, Italy.
  • Zambelli F; Cardiology Unit, Department of Emergency and Organ Transplantation, University of Bari "Aldo Moro", Bari, Italy.
  • Pesole G; Department of Biosciences, University of Milan, Milan, Italy.
Bioinformatics ; 36(24): 5590-5599, 2021 Apr 05.
Article em En | MEDLINE | ID: mdl-33367501
MOTIVATION: 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. RESULTS: In this article, we present VINYL, a flexible and fully automated system for the functional annotation and prioritization of genetic variants. Extensive analyses of both real and simulated datasets suggest that VINYL can identify clinically relevant genetic variants in a more accurate manner compared to equivalent state of the art methods, allowing a more rapid and effective prioritization of genetic variants in different experimental settings. As such we believe that VINYL can establish itself as a valuable tool to assist healthcare operators and researchers in clinical genomics investigations. AVAILABILITY AND IMPLEMENTATION: VINYL is available at http://beaconlab.it/VINYL and https://github.com/matteo14c/VINYL. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article