diff --git a/CHANGELOG.md b/CHANGELOG.md index 68397452c..5b32ce1b2 100644 --- a/CHANGELOG.md +++ b/CHANGELOG.md @@ -7,6 +7,10 @@ This project adheres to [Semantic Versioning](http://semver.org/). - Adds retroseq for mobile element detection +### Databases + +- expansionhunter variant catalog: v4.0.2 -> v5.0.0 + ### Tools - RetroSeq: 9d4f3b5 diff --git a/definitions/rd_dna_parameters.yaml b/definitions/rd_dna_parameters.yaml index 29eb40ca9..d048e6d2b 100755 --- a/definitions/rd_dna_parameters.yaml +++ b/definitions/rd_dna_parameters.yaml @@ -880,7 +880,7 @@ expansionhunter_variant_catalog_file_path: associated_recipe: - expansionhunter data_type: SCALAR - default: grch37_expansionhunter_variant_catalog_-4.0.2-.json + default: grch37_expansionhunter_variant_catalog_-5.0.0-.json exists_check: file is_reference: 1 reference: reference_dir diff --git a/t/data/references/grch37_expansionhunter_variant_catalog_-4.0.2-.json b/t/data/references/grch37_expansionhunter_variant_catalog_-5.0.0-.json similarity index 100% rename from t/data/references/grch37_expansionhunter_variant_catalog_-4.0.2-.json rename to t/data/references/grch37_expansionhunter_variant_catalog_-5.0.0-.json diff --git a/templates/mip_download_rd_dna_config_-1.0-.yaml b/templates/mip_download_rd_dna_config_-1.0-.yaml index e5daeb2e6..585795270 100644 --- a/templates/mip_download_rd_dna_config_-1.0-.yaml +++ b/templates/mip_download_rd_dna_config_-1.0-.yaml @@ -41,9 +41,8 @@ reference: - 20150915 - 20200310 expansionhunter: - - 3.0.1 - - 3.1.2 - 4.0.2 + - 5.0.0 gatk_mitochondrial_ref: - v0_m_amb - v0_m_ann @@ -445,20 +444,6 @@ reference_feature: url_prefix: https://raw.githubusercontent.com/dellytools/delly/master/excludeTemplates/ expansionhunter: grch37: - 3.0.1: - file: variant_catalog_grch37.json - file_check: variant_catalog_grch37.json.md5 - outfile: grch37_expansionhunter_variant_catalog_-3.0.1-.json - outfile_check: grch37_expansionhunter_variant_catalog_-3.0.1-.json.md5 - outfile_check_method: md5sum - url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v3.0.1/ - 3.1.2: - file: variant_catalog_grch37.json - file_check: variant_catalog_grch37.json.md5 - outfile: grch37_expansionhunter_variant_catalog_-3.1.2-.json - outfile_check: grch37_expansionhunter_variant_catalog_-3.1.2-.json.md5 - outfile_check_method: md5sum - url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v3.1.2/ 4.0.2: file: variant_catalog_grch37.json file_check: variant_catalog_grch37.json.md5 @@ -466,21 +451,14 @@ reference_feature: outfile_check: grch37_expansionhunter_variant_catalog_-4.0.2-.json.md5 outfile_check_method: md5sum url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v4.0.2/ - grch38: - 3.0.1: - file: variant_catalog_grch38.json - file_check: variant_catalog_grch38.json.md5 - outfile: grch38_expansionhunter_variant_catalog_-3.0.1-.json - outfile_check: grch38_expansionhunter_variant_catalog_-3.0.1-.json.md5 - outfile_check_method: md5sum - url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v3.0.1/ - 3.1.2: - file: variant_catalog_hg38.json - file_check: variant_catalog_hg38.json.md5 - outfile: grch38_expansionhunter_variant_catalog_-3.1.2-.json - outfile_check: grch38_expansionhunter_variant_catalog_-3.1.2-.json.md5 + 5.0.0: + file: variant_catalog_grch37.json + file_check: variant_catalog_grch37.json.md5 + outfile: grch37_expansionhunter_variant_catalog_-5.0.0-.json + outfile_check: grch37_expansionhunter_variant_catalog_-5.0.0-.json.md5 outfile_check_method: md5sum - url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v3.1.2/ + url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v5.0.0/ + grch38: 4.0.2: file: variant_catalog_hg38.json file_check: variant_catalog_hg38.json.md5 @@ -488,6 +466,13 @@ reference_feature: outfile_check: grch38_expansionhunter_variant_catalog_-4.0.2-.json.md5 outfile_check_method: md5sum url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v4.0.2/ + 5.0.0: + file: variant_catalog_hg38.json + file_check: variant_catalog_hg38.json.md5 + outfile: grch38_expansionhunter_variant_catalog_-5.0.0-.json + outfile_check: grch38_expansionhunter_variant_catalog_-5.0.0-.json.md5 + outfile_check_method: md5sum + url_prefix: https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/disease_loci/ExpansionHunter-v5.0.0/ gatk_mitochondrial_ref: grch38: v0_m_amb: