rfPred-package: Assign functional prediction rfPred scores to human missense...

In rfPred: Assign rfPred functional prediction scores to a missense variants list

Description

The package provides a function which returns the rfPred score for a list of non-synonymous missense variants. All the rfPred scores are pre-calculated and stored in a TabixFile available on a server and which can be downloaded for using the package while not connected on the Internet. The package does not work without an access to the TabixFile. However, a toy example on the chromosome Y is available within the package to test the rfPred_scores function. curves with numbers of subjects at risk, compare data sets, display spaghetti-plot, build multi-contingency tables...

Author(s)

Fabienne Jabot-Hanin, Hugo Varet and Jean-Philippe Jais

References

dbNSFP database: Liu X, Jian X and Boerwinkle E. 2011. dbNSFP: a lightweight database of human non-synonymous SNPs and their functional predictions. Human Mutation. 32:894-899.

rfPred method: Jabot-Hanin F, Varet H, Tores F and Jais J-P. 2013. rfPred: a new meta-score for functional prediction of missense variants in human exome (submitted).

rfPred documentation built on Nov. 8, 2020, 11:11 p.m.