VINYL：通过生存分析进行变异优先级排序。

VINYL: Variant prIoritizatioN bY survivaL analysis.

作者信息

Chiara Matteo, Mandreoli Pietro, Tangaro Marco Antonio, D'Erchia Anna Maria, Sorrentino Sandro, Forleo Cinzia, Horner David S, Zambelli Federico, Pesole Graziano

机构信息

Department of Biosciences, University of Milan, Milan, Italy.

Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Council, Bari, Italy.

出版信息

Bioinformatics. 2021 Apr 5;36(24):5590-5599. doi: 10.1093/bioinformatics/btaa1067.

DOI:10.1093/bioinformatics/btaa1067

PMID:33367501

Abstract

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.

摘要

动机

基因组重测序技术的临床应用通常会产生大量数据，需要对这些数据进行仔细注释和解读，以识别可能与病理状况相关的基因变异。在此背景下，用于基因变异功能注释和优先级排序的准确且可重复的方法至关重要。

结果

在本文中，我们介绍了VINYL，这是一个用于基因变异功能注释和优先级排序的灵活且全自动的系统。对真实数据集和模拟数据集的广泛分析表明，与同等的现有技术方法相比，VINYL能够以更准确的方式识别临床相关的基因变异，从而在不同实验环境中更快速有效地对基因变异进行优先级排序。因此，我们认为VINYL可以成为协助医疗保健人员和研究人员进行临床基因组学研究的有价值工具。