VIPdb

Genome sequencing identifies vast number of genetic variants. Predicting these variants’ molecular and clinical effects is one of the preeminent challenges in genetics. Accurate prediction of the impact of genetic variants improves our understanding of how genetic information is conveyed to molecular and cellular functions, and is an essential step towards precision medicine. Over one hundred tools/resources have been developed specifically for this purpose. We summarize these tools as well as their characteristics, in the genetic Variant Impact Predictor Database (VIPdb). This database will help researchers and clinicians explore appropriate tools, and inform the development of improved methods.基因组测序可识别出海量遗传变异。预测此类变异的分子与临床效应，是遗传学领域的核心挑战之一。精准预测遗传变异的影响，有助于我们理解遗传信息如何传递至分子与细胞功能层面，同时亦是迈向精准医学的关键一环。目前已有超百种专门针对该任务开发的工具与资源。我们将此类工具及其特性汇总至遗传变异效应预测器数据库（Genetic Variant Impact Predictor Database，简称VIPdb）。该数据库可助力研究人员与临床医师遴选适配的工具，并为改进型研究方法的开发提供参考依据。

搜集汇总

背景与挑战

背景概述

VIPdb是一个遗传变异影响预测工具数据库，旨在汇总数百种预测工具的特征、趋势和临床决策支持信息，以帮助研究人员和临床医生选择合适的工具并推动方法发展。当前版本2.01收录了跨越三十年开发的407个工具，并整合了临床指南阈值和社区性能评估数据。