## ----prereqs,include=FALSE,error=0-------------------------------------------- library(BiocStyle) knitr::opts_chunk$set( collapse = TRUE, comment = "#>", cache = TRUE, out.width = "100%" ) has_env <- reticulate::virtualenv_exists("vrs_env") has_gcloud <- AnVILBase::has_avworkspace( strict = TRUE, platform = AnVILGCP::gcp() ) has_envs <- has_env && has_gcloud ## ----install, eval=FALSE------------------------------------------------------ # if (!requireNamespace("BiocManager", quietly = TRUE)) # install.packages("BiocManager") # # BiocManager::install("AnVILVRS") ## ----load--------------------------------------------------------------------- library(AnVILVRS) library(reticulate) ## ----setup, eval=FALSE-------------------------------------------------------- # install_AnVILVRS(envname = "vrs_env") ## ----venv, eval=has_env------------------------------------------------------- # use_virtualenv("vrs_env", required = TRUE) ## ----translate, eval=has_env-------------------------------------------------- # get_vrs_id("chr7-87509329-A-G", "gnomad") # get_vrs_id("NC_000005.10:80656509:C:TT", "spdi") # get_vrs_id("NC_000005.10:g.80656510delinsTT", "hgvs") # get_vrs_id("5 : 80656489 C > T", "beacon") ## ----allele, eval=has_env----------------------------------------------------- # allele <- get_vrs_allele("5 : 80656489 C > T", "beacon") # allele ## ----variant_from_allele, eval=has_env---------------------------------------- # get_variant_from_allele(allele, "hgvs") ## ----download, eval=has_envs-------------------------------------------------- # library(readr) # pop_desc <- get_pop_descriptor() # read_tsv( # file = pop_desc, # col_types = cols( # population_descriptor_id = col_character(), # population_descriptor = col_character(), # subject_id = col_character(), # country_of_recruitment = col_character(), # population_label = col_character() # ) # ) ## ----seqrepo, eval=FALSE------------------------------------------------------ # get_seqrepo(destdir = tempdir()) ## ----get_caf, eval=FALSE------------------------------------------------------ # use_virtualenv("vrs_env", required = TRUE) # toolkit_dir <- setup_vrs_toolkit() # vcf <- AnVILVRS:::.get_fixture_vcf() # vcf_index <- build_vrs_index() # variant_id <- "chr1-20094-TAA-T" # vrs_id <- get_vrs_id(variant_id, "gnomad") # pop_desc <- get_pop_descriptor() # get_caf( # vrs_id = vrs_id, # vcf = vcf, # vcf_index = vcf_index, # phenotype = "USA", # pop_desc_file = pop_desc, # toolkit_dir = toolkit_dir # ) ## ----session_info------------------------------------------------------------- sessionInfo()