Annotate and rank SNVs per family

genomic-medicine-sweden · Nov 12, 2024 · 2e36008 · 2e36008
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Showing 13 changed files with 218 additions and 268 deletions.
diff --git a/CHANGELOG.md b/CHANGELOG.md
@@ -89,6 +89,8 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 - [#489](https://github.com/genomic-medicine-sweden/nallo/pull/489) - Updated nf-core template to 3.0.2
 - [#493](https://github.com/genomic-medicine-sweden/nallo/pull/493) - Refactored `nallo.nf` to remove many nested ifs and easier to follow logic
 - [#493](https://github.com/genomic-medicine-sweden/nallo/pull/493) - Updated rank_variants dependencies with sv_annotation
+- [#502](https://github.com/genomic-medicine-sweden/nallo/pull/502) - Changed to annotating and ranking SNVs per family instead of per project
+- [#502](https://github.com/genomic-medicine-sweden/nallo/pull/502) - Changed output documentation and structure to match `sample` and `family` for all variants
 
 ### `Removed`
 
@@ -97,6 +99,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 - [#379](https://github.com/genomic-medicine-sweden/nallo/pull/379) - Removed VEP Plugins from testdata ([genomic-medicine-sweden/test-datasets#16](https://github.com/genomic-medicine-sweden/test-datasets/pull/16))
 - [#388](https://github.com/genomic-medicine-sweden/nallo/pull/388) - Removed support for co-phasing SVs with HiPhase, as the officially supported caller (pbsv) is not in the pipeline
 - [#412](https://github.com/genomic-medicine-sweden/nallo/pull/412) - Removed `bcftools/index`, as indexing is handled by other modules and no references remained. ([#377](https://github.com/genomic-medicine-sweden/nallo/issues/377))
+- [#502](https://github.com/genomic-medicine-sweden/nallo/pull/502) - Removed support for automatically creating an echvar database with SNVs and INDELs
 
 ### `Fixed`
 
@@ -107,6 +110,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 - [#402](https://github.com/genomic-medicine-sweden/nallo/pull/402) - Fixed double sample names in HiFiCNV output
 - [#438](https://github.com/genomic-medicine-sweden/nallo/pull/438) - Fixed missing/malformed software versions in `ADD_FOUND_IN_TAG`, `ADD_MOST_SEVERE_CSQ`, `ADD_MOST_SEVERE_PLI`, `SAMPLESHEET_PED`, `SOMALIER_PED` and `TRGT`
 - [#444](https://github.com/genomic-medicine-sweden/nallo/pull/444) - Fixed genmod assigning wrong models on chromosome X when named `chrX` ([#343](https://github.com/genomic-medicine-sweden/nallo/issues/343))
+- [#502](https://github.com/genomic-medicine-sweden/nallo/pull/502) - Fixed genmod only scoring compounds in one family [#501](https://github.com/genomic-medicine-sweden/nallo/issues/501)
 
 ### Parameters
 

diff --git a/conf/modules/call_svs.config b/conf/modules/call_svs.config
@@ -75,7 +75,7 @@ process {
             '--write-index=tbi'
         ].join(' ')
         publishDir = [
-            path: { "${params.outdir}/svs/single_sample/${meta.id}" },
+            path: { "${params.outdir}/svs/sample/${meta.id}" },
             mode: params.publish_dir_mode,
             saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
         ]

diff --git a/conf/modules/general.config b/conf/modules/general.config
@@ -27,7 +27,7 @@ process {
     withName: '.*:NALLO:BCFTOOLS_STATS' {
         ext.prefix = { "${vcf}" }
         publishDir = [
-            path: { "${params.outdir}/snvs/stats/single_sample" },
+            path: { "${params.outdir}/snvs/stats/sample" },
             mode: params.publish_dir_mode,
             saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
         ]
@@ -51,7 +51,7 @@ process {
             '--write-index=tbi'
         ].join(' ') }
         publishDir = [
-            path: { "${params.outdir}/snvs/multi_sample/${meta.id}" },
+            path: { "${params.outdir}/snvs/family/${meta.id}" },
             mode: params.publish_dir_mode,
             saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
         ]
@@ -64,7 +64,7 @@ process {
             '--write-index=tbi'
         ].join(' ')
         publishDir = [
-            path: { "${params.outdir}/snvs/single_sample/" },
+            path: { "${params.outdir}/snvs/sample/" },
             mode: params.publish_dir_mode,
             // Can't use prefix as it would come from the original file
             saveAs: { filename ->
@@ -88,7 +88,7 @@ process {
             '--write-index=tbi'
         ].join(' ')
         publishDir = [
-            path: { "${params.outdir}/svs/single_sample/" },
+            path: { "${params.outdir}/svs/sample/" },
             mode: params.publish_dir_mode,
             // Can't use prefix as it would come from the original file
             saveAs: { filename ->
@@ -111,13 +111,6 @@ process {
         ]
     }
 
-    withName: '.*:NALLO:SOMALIER_PED' {
-        publishDir = [
-            path: { "${params.outdir}/pedigree/project/" },
-            saveAs: { filename -> filename.equals('versions.yml') ? null : filename },
-        ]
-    }
-
     withName: '.*:NALLO:SOMALIER_PED_FAMILY' {
         publishDir = [
             path: { "${params.outdir}/pedigree/family/" },
@@ -198,14 +191,6 @@ process {
         ]
     }
 
-    withName: '.*:NALLO:ECHTVAR_ENCODE' {
-        publishDir = [
-            path: { "${params.outdir}/databases/echtvar/encode/${meta.id}" },
-            mode: params.publish_dir_mode,
-            saveAs: { filename -> filename.equals('versions.yml') ? null : filename }
-        ]
-    }
-
     /*
     ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
     Summary