set.CADDregions {Ravages} | R Documentation |
Variants annotation based on 'CADD regions' and genomic categories
Description
Attributes CADD regions and genomic categories to variants based on their positions
Usage
set.CADDregions(x, verbose = T, path.data)
Arguments
x |
A bed.matrix |
verbose |
Whether to display information about the function actions |
path.data |
The repository where data for RAVA-FIRST are or will be downloaded from https://lysine.univ-brest.fr/RAVA-FIRST/ |
Details
To attribute variants to CADD regions and genomic categories, the files "CADDRegions.2021.hg19.bed.gz" and "FunctionalAreas.hg19.bed.gz" will be downloaded from https://lysine.univ-brest.fr/RAVA-FIRST/ in the repository of the package Ravages.
CADD regions are non-overlapping regions that have been defined in the whole genome to perform rare variant association tests in the RAVA.FIRST()
pipeline.
It is recommended to use this function chromosome by chromosome for large datasets for time and memory managment.
Value
The same bed matrix as x with three additional columns :
genomic.region |
The CADD region of each variant |
SubRegion |
The genomic category of each variant among 'Coding', 'Regulatory' or 'Intergenic' |
adjCADD.Median |
The median of adjusted CADD of variants observed at least to times in GnomAD genomes r2.0.1 |
Source
https://lysine.univ-brest.fr/RAVA-FIRST/
See Also
RAVA.FIRST
, filter.adjustedCADD
, burden.subscores
Examples
#Import 1000Genome data from region around LCT gene
#x <- as.bed.matrix(LCT.gen, LCT.fam, LCT.bim)
#Group variants within CADD regions and genomic categories
#x <- set.CADDregions(x)
#table(x@snps$genomic.region) #CADD regions
#table(x@snps$SubRegion) #Genomic categories