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Merge pull request #601 from asp8200/update_sentieon_dnascope_model
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Updating Sentieon DNAscope ml-model
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ramprasadn authored Aug 21, 2024
2 parents 243c4b1 + fbf2d4f commit d635171
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Showing 4 changed files with 4 additions and 3 deletions.
1 change: 1 addition & 0 deletions CHANGELOG.md
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Expand Up @@ -21,6 +21,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0

### `Changed`

- Updated the model for Sentieon DNAScope to v1.1 [#601](https://github.com/nf-core/raredisease/pull/601)
- bwameme can no longer be used to align mitochondrial reads [#600](https://github.com/nf-core/raredisease/pull/600)
- Males' X and Y chromosomes will be treated as haploids during variant calling by deepvariant [#598](https://github.com/nf-core/raredisease/pull/598)
- Acceptable type for lane field in the samplesheet from number to string [#597](https://github.com/nf-core/raredisease/pull/597)
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2 changes: 1 addition & 1 deletion conf/test.config
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Expand Up @@ -40,7 +40,7 @@ params {
intervals_wgs = params.pipelines_testdata_base_path + 'raredisease/reference/target_wgs.interval_list'
intervals_y = params.pipelines_testdata_base_path + 'raredisease/reference/targetY.interval_list'
known_dbsnp = params.pipelines_testdata_base_path + 'raredisease/reference/dbsnp_-138-.vcf.gz'
ml_model = 'https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.0.model'
ml_model = 'https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.1.model'
mobile_element_references = params.pipelines_testdata_base_path + 'raredisease/reference/mobile_element_references.tsv'
mobile_element_svdb_annotations = params.pipelines_testdata_base_path + 'raredisease/reference/svdb_querydb_files.csv'
reduced_penetrance = params.pipelines_testdata_base_path + 'raredisease/reference/reduced_penetrance.tsv'
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2 changes: 1 addition & 1 deletion conf/test_one_sample.config
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Expand Up @@ -40,7 +40,7 @@ params {
intervals_wgs = params.pipelines_testdata_base_path + 'raredisease/reference/target_wgs.interval_list'
intervals_y = params.pipelines_testdata_base_path + 'raredisease/reference/targetY.interval_list'
known_dbsnp = params.pipelines_testdata_base_path + 'raredisease/reference/dbsnp_-138-.vcf.gz'
ml_model = 'https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.0.model'
ml_model = 'https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.1.model'
mobile_element_references = params.pipelines_testdata_base_path + 'raredisease/reference/mobile_element_references.tsv'
mobile_element_svdb_annotations = params.pipelines_testdata_base_path + 'raredisease/reference/svdb_querydb_files.csv'
reduced_penetrance = params.pipelines_testdata_base_path + 'raredisease/reference/reduced_penetrance.tsv'
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2 changes: 1 addition & 1 deletion conf/test_sentieon.config
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Expand Up @@ -38,7 +38,7 @@ params {
intervals_wgs = "https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/target_wgs.interval_list"
intervals_y = "https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/targetY.interval_list"
known_dbsnp = "https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/dbsnp_-138-.vcf.gz"
ml_model = "https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.0.model"
ml_model = "https://s3.amazonaws.com/sentieon-release/other/SentieonDNAscopeModel1.1.model"
mobile_element_references = "https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/mobile_element_references.tsv"
mobile_element_svdb_annotations = "https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/svdb_querydb_files.csv"
reduced_penetrance = "https://raw.githubusercontent.com/nf-core/test-datasets/raredisease/reference/reduced_penetrance.tsv"
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