@@ -26,7 +26,7 @@ reference:
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chromograph_cytoband :
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- v1.0
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clinvar :
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- - 20220829
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+ - 20231203
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- 20230508
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dbnsfp :
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- 3.5a
@@ -111,8 +111,8 @@ reference:
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- gold_standard_indels
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rank_model :
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- v0.2
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- - v1.34
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- v1.35
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+ - v1.36
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reduced_penetrance :
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- 2017
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scout_exons :
@@ -124,15 +124,15 @@ reference:
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- v1.4
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svrank_model :
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- v0.1
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- - v1.9
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- v1.10
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+ - v1.11
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vcf2cytosure_blacklist_regions :
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- 1.0
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- 200520
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vcfanno_config :
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- v0.2
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- - v1.18
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- v1.19
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+ - v1.20
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vcfanno_functions :
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- v1.0
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reference_feature :
@@ -323,15 +323,6 @@ reference_feature:
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url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/region/
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clinvar :
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grch37 :
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- 20220829 :
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- file : clinvar_20220829.vcf.gz
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- file_check : clinvar_20220829.vcf.gz.md5
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- file_index : clinvar_20220829.vcf.gz.tbi
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- outfile : grch37_clinvar_-20220829-.vcf.gz
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- outfile_check : grch37_clinvar_-20220829-.vcf.gz.md5
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- outfile_index : grch37_clinvar_-20220829-.vcf.gz.tbi
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- outfile_check_method : md5sum
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- url_prefix : https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/weekly/
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20230508 :
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file : clinvar_20230508.vcf.gz
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file_check : clinvar_20230508.vcf.gz.md5
@@ -341,16 +332,16 @@ reference_feature:
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outfile_index : grch37_clinvar_-20230508-.vcf.gz.tbi
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outfile_check_method : md5sum
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url_prefix : ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/weekly/
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- grch38 :
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- 20220829 :
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- file : clinvar_20220829.vcf.gz
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- file_check : clinvar_20220829.vcf.gz.md5
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- file_index : clinvar_20220829.vcf.gz.tbi
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- outfile : grch38_clinvar_-20220829-.vcf.gz
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- outfile_check : grch38_clinvar_-20220829-.vcf.gz.md5
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- outfile_index : grch38_clinvar_-20220829-.vcf.gz.tbi
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+ 20231203 :
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+ file : clinvar_20231203.vcf.gz
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+ file_check : clinvar_20231203.vcf.gz.md5
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+ file_index : clinvar_20231203.vcf.gz.tbi
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+ outfile : grch37_clinvar_-20231203-.vcf.gz
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+ outfile_check : grch37_clinvar_-20231203-.vcf.gz.md5
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+ outfile_index : grch37_clinvar_-20231203-.vcf.gz.tbi
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outfile_check_method : md5sum
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- url_prefix : https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/weekly/
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+ url_prefix : https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/weekly/
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+ grch38 :
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20230508 :
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file : clinvar_20230508.vcf.gz
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file_check : clinvar_20230508.vcf.gz.md5
@@ -360,6 +351,15 @@ reference_feature:
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outfile_index : grch38_clinvar_-20230508-.vcf.gz.tbi
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outfile_check_method : md5sum
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url_prefix : https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/weekly/
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+ 20231203 :
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+ file : clinvar_20231203.vcf.gz
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+ file_check : clinvar_20231203.vcf.gz.md5
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+ file_index : clinvar_20231203.vcf.gz.tbi
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+ outfile : grch38_clinvar_-20231203-.vcf.gz
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+ outfile_check : grch38_clinvar_-20231203-.vcf.gz.md5
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+ outfile_index : grch38_clinvar_-20231203-.vcf.gz.tbi
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+ outfile_check_method : md5sum
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+ url_prefix : https://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh38/weekly/
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dbnsfp :
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grch37 :
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3.5a :
@@ -900,20 +900,20 @@ reference_feature:
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url_prefix : https://storage.googleapis.com/genomics-public-data/resources/broad/hg38/v0/
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rank_model :
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grch37 :
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- v1.34 :
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- file : rank_model_-v1.34-.ini
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- file_check : rank_model_-v1.34-.ini.md5
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- outfile : rank_model_-v1.34-.ini
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- outfile_check : rank_model_-v1.34-.ini.md5
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- outfile_check_method : md5sum
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- url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/rank_model/
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v1.35 :
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file : rank_model_-v1.35-.ini
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file_check : rank_model_-v1.35-.ini.md5
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outfile : rank_model_-v1.35-.ini
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outfile_check : rank_model_-v1.35-.ini.md5
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outfile_check_method : md5sum
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url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/rank_model/
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+ v1.36 :
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+ file : rank_model_-v1.36-.ini
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+ file_check : rank_model_-v1.36-.ini.md5
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+ outfile : rank_model_-v1.36-.ini
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+ outfile_check : rank_model_-v1.36-.ini.md5
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+ outfile_check_method : md5sum
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+ url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/rank_model/
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grch38 :
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v0.2 :
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file : grch38_rank_model_-v0.2-.ini
@@ -985,6 +985,13 @@ reference_feature:
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outfile_check : svrank_model_-v1.10-.ini.md5
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outfile_check_method : md5sum
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url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/rank_model/
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+ v1.11 :
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+ file : svrank_model_-v1.11-.ini
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+ file_check : svrank_model_-v1.11-.ini.md5
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+ outfile : svrank_model_-v1.11-.ini
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+ outfile_check : svrank_model_-v1.11-.ini.md5
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+ outfile_check_method : md5sum
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+ url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/rank_model/
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grch38 :
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v0.1 :
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file : grch38_sv_rank_model_-v0.1-.ini
@@ -1024,6 +1031,13 @@ reference_feature:
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outfile_check : grch37_vcfanno_config_-v1.19-.toml.md5
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outfile_check_method : md5sum
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url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/annotation/
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+ v1.20 :
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+ file : grch37_vcfanno_config_-v1.20-.toml
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+ file_check : grch37_vcfanno_config_-v1.20-.toml.md5
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+ outfile : grch37_vcfanno_config_-v1.20-.toml
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+ outfile_check : grch37_vcfanno_config_-v1.20-.toml.md5
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+ outfile_check_method : md5sum
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+ url_prefix : https://raw.githubusercontent.com/Clinical-Genomics/reference-files/master/rare-disease/annotation/
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grch38 :
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v0.2 :
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file : grch38_vcfanno_config_-v0.2-.toml
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