revel突变变异检测分析 - 知乎
REVEL 是一种错义突变预测的集成方法,结合合了多个软件 (MutPred 、 FATHMM 、 VEST 、 PolyPhen 、 SIFT 、 PROVEAN 、 Mutation Assessor 、 Mutation Taster 、LRT、 GERP 、 SiPhy 、 phyloP 和 phastCons) 的预测结果,使用致病和罕见的中性无义突变进行训练,运用random forest算法,对罕见 ...
Searching…
REVEL 是一种错义突变预测的集成方法,结合合了多个软件 (MutPred 、 FATHMM 、 VEST 、 PolyPhen 、 SIFT 、 PROVEAN 、 Mutation Assessor 、 Mutation Taster 、LRT、 GERP 、 SiPhy 、 phyloP 和 phastCons) 的预测结果,使用致病和罕见的中性无义突变进行训练,运用random forest算法,对罕见 ...
REVEL Overview REVEL is an ensemble method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, Mu...
Oct 6, 2016 · The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for...
REVEL was trained using recently discovered pathogenic and rare neutral missense variants, excluding those previously used to train its constituent tools. The REVEL score for an individual missense variant can range f...
Dec 4, 2023 · REVEL had the best performance of the metapredictors tested on the results of the clinically representative dataset with an area under the receiver operating characteristic curve of 0.82. However, this s...
REVEL和BayesDel优于其他所有元预测器(CADD,MetaSVM,本征),具有较高的正预测值,可比较的负预测值,较高的产量和较高的整体预测性能。 与REVEL或BayesDel相比,SIFT和PolyPhen2的协议产生的产量略高,但总体预测性能却较低。
Aug 12, 2019 · 综合性软件:主要是结合多个预测软件的结果,同时收集相关特征信息,利用机器学习等相关算法结合突变的多维特征训练模型进行预测,如CADD, DANN,MetaSVM, MetaLR,CONDEL, M-CAP, REVEL等。
Jan 20, 2021 · 与其他常用missense致病性预测软件不同,REVEL整合了包括SIFT、PolyPhen、GERP++在内的13个软件的预测结果,对罕见变异的预测结果更加出色。
REVEL or "rare exome variant ensemble learner" is an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAsse...
Oct 6, 2016 · The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for...