variantAnnotation: variantAnnotation

Description Usage Arguments

View source: R/variantAnnotation.R

Description

Raw VCF files are annotated using Variant Effect Predictor (VEP) The VEP uses the coordinates and alleles in the VCF file to infer biological context for each variant including the location of each mutation, its biological consequence (frameshift/ silent mutation), and the affected genes. The following databases are used for VCF annotation:

Usage

1
variantAnnotation(vcf, vep, cache_dir, ref, out_path, sample_name)

Arguments

vcf

File

vep

File

ref

Path for the reference genome to use for the alignment (fasta format) and the corresponding indexes generated with bwa index and a dictionary index file generated by CreateSequenceDictionary gatk tool.

out_path

Path where the output of the analysis will be saved.

cache_file

Nan


msubirana/ergWgsTools documentation built on June 8, 2020, 8:07 a.m.