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3 changes: 1 addition & 2 deletions .github/workflows/add-issues-to-project.yml
Original file line number Diff line number Diff line change
Expand Up @@ -13,11 +13,10 @@ jobs:
name: Add issue to project
runs-on: ubuntu-latest
steps:
- uses: actions/add-to-project@244f685bbc3b7adfa8466e08b698b5577571133e
- uses: actions/add-to-project@5afcf98fcd03f1c2f92c3c83f58ae24323cc57fd #v2.0.0
with:
# You can target a project in a different organization or user account
# to the issue.
# For organization projects: https://github.com/orgs/ORG_NAME/projects/PROJECT_NUMBER
# For user projects: https://github.com/users/USER_NAME/projects/PROJECT_NUMBER
project-url: https://github.com/orgs/childrens-bti/projects/1
github-token: ${{ secrets.ADD_TO_PROJECT_PAT }}
42 changes: 21 additions & 21 deletions scripts/select-clinVar-submissions.R
Original file line number Diff line number Diff line change
Expand Up @@ -59,10 +59,10 @@ conflict_res <- opt$conflict_res

## load variant summary file, which reports latest ClinVar consensus calls for each variant
variant_summary_df <- vroom(input_variant_summary,
delim = "\t",
col_types = c(ReferenceAlleleVCF = "c", AlternateAlleleVCF = "c", PositionVCF = "i", VariationID = "n"),
show_col_types = FALSE
) %>%
delim = "\t",
col_types = c(ReferenceAlleleVCF = "c", AlternateAlleleVCF = "c", PositionVCF = "i", VariationID = "n"),
show_col_types = FALSE
) %>%
dplyr::rename(
AlleleID = dplyr::any_of(c("AlleleID", "#AlleleID"))
) %>%
Expand All @@ -84,7 +84,7 @@ variant_summary_df <- vroom(input_variant_summary,
dplyr::filter(!ReviewStatus %in% c(
"no assertion provided",
"no assertion criteria provided",
"no classification for the individual variant",
"no classification for the individual variant",
"no classification provided",
"no classification for the single variant",
"no classifications from unflagged records"
Expand All @@ -102,10 +102,10 @@ while (grepl("^#", readLines(con, n = 1))) {

# Load submission file while skipping number of lines determined above
submission_summary_df <- vroom(input_submission_file,
skip = skip_lines,
delim = "\t",
show_col_types = F
) %>%
skip = skip_lines,
delim = "\t",
show_col_types = F
) %>%
dplyr::rename(
VariationID = dplyr::any_of(c("VariationID", "#VariationID"))
)
Expand Down Expand Up @@ -155,16 +155,16 @@ submission_summary_df <- submission_summary_df %>%
) %>%
dplyr::filter(
!ReviewStatus %in% c(
"no assertion provided",
"no assertion provided",
"no assertion criteria provided",
"no classification provided",
"no classification provided",
"flagged submission"
),
ClinicalSignificance %in% c(
"Pathogenic",
"Likely pathogenic",
"Benign",
"Likely benign",
"Pathogenic",
"Likely pathogenic",
"Benign",
"Likely benign",
"Uncertain significance"
),
# Filter on contributing records if this column is present in supplied file
Expand All @@ -180,7 +180,7 @@ submission_merged_df <- submission_summary_df %>%
dplyr::rename("LastEvaluated" = DateLastEvaluated) %>%
left_join(variant_summary_df,
by = "VariationID",
multiple = "all",
multiple = "all",
suffix = c("_sub", "_var"),
relationship = "many-to-many"
) %>%
Expand All @@ -202,11 +202,11 @@ variants_no_conflict_expert <- submission_merged_df %>%
variants_no_conflicts <- submission_merged_df %>%
dplyr::filter(!VariationID %in% variants_no_conflict_expert$VariationID) %>%
dplyr::filter(
ClinicalSignificance_sub == ClinicalSignificance_var |
is.na(ClinicalSignificance_var) |
(grepl("Pathogenic|Likely pathogenic", ClinicalSignificance_sub) & grepl("Pathogenic|Likely pathogenic", ClinicalSignificance_var)) |
(grepl("Benign|Likely benign", ClinicalSignificance_sub) & grepl("Benign|Likely benign", ClinicalSignificance_var)) |
(grepl("Uncertain significance", ClinicalSignificance_sub) & grepl("Uncertain significance", ClinicalSignificance_var))
ClinicalSignificance_sub == ClinicalSignificance_var |
is.na(ClinicalSignificance_var) |
(grepl("Pathogenic|Likely pathogenic", ClinicalSignificance_sub) & grepl("Pathogenic|Likely pathogenic", ClinicalSignificance_var)) |
(grepl("Benign|Likely benign", ClinicalSignificance_sub) & grepl("Benign|Likely benign", ClinicalSignificance_var)) |
(grepl("Uncertain significance", ClinicalSignificance_sub) & grepl("Uncertain significance", ClinicalSignificance_var))
) %>%
dplyr::arrange(desc(mdy(LastEvaluated))) %>%
distinct(VariationID, .keep_all = T) %>%
Expand Down