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update hgnc table
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berntpopp committed Sep 14, 2023
1 parent 29e6426 commit c36db9b
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Showing 2 changed files with 5 additions and 2 deletions.
7 changes: 5 additions & 2 deletions analyses/B_AnnotationHGNC/B_AnnotationHGNC.R
Original file line number Diff line number Diff line change
Expand Up @@ -33,6 +33,7 @@ options(scipen = 999)
# hgnc functions
source("../functions/ensembl-functions.R", local = TRUE)
source("../functions/gnomad-functions.R", local = TRUE)
source("../functions/gtex-functions.R", local = TRUE)
source("../functions/file-functions.R", local = TRUE)
############################################

Expand Down Expand Up @@ -135,7 +136,7 @@ if (check_file_age("clingen_gene_disease_summary", "../shared/data/downloads/",
# ClinGen file links to genemap2 file needs to be set in config
clingen_gene_disease_summary_url <- config_vars_proj$clingen_gene_disease_summary_url

clingen_gene_disease_summary_filename <- paste0("../shared/data/downloads/clingen_gene_sdisease_summary.",
clingen_gene_disease_summary_filename <- paste0("../shared/data/downloads/clingen_gene_disease_summary.",
current_date,
".csv")

Expand Down Expand Up @@ -321,13 +322,15 @@ non_alt_loci_set_string <- non_alt_loci_set %>%

############################################
## add gene coordinates from ensembl
# and compute ensembl_gene_id_version for hg19 and hg38
# add ensembl_gene_id_version for hg19 and hg38 using the ensembl functions
# add genocode id using the GTEx API and the get_multiple_gencode_ids function
# TODO: fix warning "! Ensembl will soon enforce the use of https. Ensure the 'host' argument includes https://""
non_alt_loci_set_coordinates <- non_alt_loci_set_string %>%
mutate(ensembl_gene_id_version_hg19 =
gene_id_version_from_ensembl(ensembl_gene_id, reference = "hg19")$ensembl_gene_id_version) %>%
mutate(ensembl_gene_id_version_hg38 =
gene_id_version_from_ensembl(ensembl_gene_id, reference = "hg38")$ensembl_gene_id_version) %>%
mutate(gencode_id = get_multiple_gencode_ids(symbol)$gencode_id) %>%
mutate(hg19_coordinates_from_ensembl =
gene_coordinates_from_ensembl(ensembl_gene_id)) %>%
mutate(hg19_coordinates_from_symbol =
Expand Down
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