Add option to restrict analysis to specific contigs

CHANGELOG.md

@@ -8,6 +8,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 ### `Added`
 
 - A new analysis option `mito` to call and annotate only mitochondrial variants [#608](https://github.com/nf-core/raredisease/pull/608)
+- An option to restrict analysis to specific contigs [#644](https://github.com/nf-core/raredisease/pull/644)
 
 ### `Changed`
 
@@ -28,6 +29,11 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
 
 ### Parameters
 
+| Old parameter | New parameter       |
+| ------------- | ------------------- |
+|               | extract_alignments  |
+|               | restrict_to_contigs |
+
 ### Tool updates
 
 | Tool       | Old version | New version |

conf/modules/align_bwa_bwamem2_bwameme.config

@@ -50,6 +50,11 @@ process {
         ext.prefix = { "${meta.id}_sorted_merged" }
     }
 
+    withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:EXTRACT_ALIGNMENTS' {
+        ext.prefix = { "${meta.id}_sorted_merged_extracted" }
+        ext.args2 = { params.restrict_to_contigs }
+    }
+
     withName: '.*ALIGN:ALIGN_BWA_BWAMEM2_BWAMEME:MARKDUPLICATES' {
         ext.args = "--TMP_DIR ."
         ext.prefix = { "${meta.id}_sorted_md" }

conf/modules/align_sentieon.config

@@ -30,6 +30,11 @@ process {
         ext.prefix = { "${meta.id}_merged.bam" }
     }
 
+    withName: '.*ALIGN:ALIGN_SENTIEON:EXTRACT_ALIGNMENTS' {
+        ext.prefix = { "${meta.id}_merged_extracted" }
+        ext.args2 = { params.restrict_to_contigs }
+    }
+
     withName: '.*ALIGN:ALIGN_SENTIEON:SENTIEON_DEDUP' {
         ext.args4 = { $params.rmdup ? "--rmdup" : '' }
         ext.prefix = { "${meta.id}_dedup.bam" }

docs/usage.md

@@ -168,22 +168,25 @@ The mandatory and optional parameters for each category are tabulated below.
 
 ##### 1. Alignment
 
-| Mandatory                      | Optional                       |
-| ------------------------------ | ------------------------------ |
-| aligner<sup>1</sup>            | fasta_fai<sup>4</sup>          |
-| fasta<sup>2</sup>              | bwamem2<sup>4</sup>            |
-| platform                       | bwa<sup>4</sup>                |
-| mito_name/mt_fasta<sup>3</sup> | bwameme<sup>4</sup>            |
-|                                | known_dbsnp<sup>5</sup>        |
-|                                | known_dbsnp_tbi<sup>5</sup>    |
-|                                | min_trimmed_length<sup>6</sup> |
+| Mandatory                      | Optional                        |
+| ------------------------------ | ------------------------------- |
+| aligner<sup>1</sup>            | fasta_fai<sup>4</sup>           |
+| fasta<sup>2</sup>              | bwamem2<sup>4</sup>             |
+| platform                       | bwa<sup>4</sup>                 |
+| mito_name/mt_fasta<sup>3</sup> | bwameme<sup>4</sup>             |
+|                                | known_dbsnp<sup>5</sup>         |
+|                                | known_dbsnp_tbi<sup>5</sup>     |
+|                                | min_trimmed_length<sup>6</sup>  |
+|                                | extract_alignments              |
+|                                | restrict_to_contigs<sup>7</sup> |
 
 <sup>1</sup>Default value is bwamem2. Other alternatives are bwa, bwameme and sentieon (requires valid Sentieon license ).<br />
 <sup>2</sup>Analysis set reference genome in fasta format, first 25 contigs need to be chromosome 1-22, X, Y and the mitochondria.<br />
 <sup>3</sup>If mito_name is provided, mt_fasta can be generated by the pipeline.<br />
 <sup>4</sup>fasta_fai, bwa, bwamem2 and bwameme, if not provided by the user, will be generated by the pipeline when necessary.<br />
 <sup>5</sup>Used only by Sentieon.<br />
 <sup>6</sup>Default value is 40. Used only by fastp.<br />
+<sup>7</sup>Used to limit your analysis to specific contigs. Can be used to remove alignments to unplaced contigs to minimize potential errors. This parameter should be used in conjuction with `extract_alignments` parameter.<br />
 
 ##### 2. QC stats from the alignment files
 

nextflow.config

@@ -24,6 +24,8 @@ params {
     analysis_type              = 'wgs'
     bwa_as_fallback            = false
     bait_padding               = 100
+    extract_alignments         = false
+    restrict_to_contigs        = null
     run_mt_for_wes             = false
     run_rtgvcfeval             = false
     save_mapped_as_cram        = false

nextflow_schema.json

@@ -503,6 +503,13 @@
                     "help_text": "errorStrategy needs to be set to ignore for the bwamem2 process for the fallback to work. Turned off by default.",
                     "fa_icon": "fas fa-toggle-on"
                 },
+                "extract_alignments": {
+                    "type": "boolean",
+                    "default": "false",
+                    "description": "After aligning the reads to a reference, extract alignments from specific regions/contigs and restrict the analysis to those regions/contigs.",
+                    "help_text": "Set this to true, and specify the contig(s) using `restrict_to_contigs` parameter",
+                    "fa_icon": "fas fa-toggle-on"
+                },
                 "platform": {
                     "type": "string",
                     "default": "illumina",
@@ -516,6 +523,11 @@
                     "fa_icon": "fas fa-align-center",
                     "enum": ["xy", "hetx", "sry"]
                 },
+                "restrict_to_contigs": {
+                    "type": "string",
+                    "description": "Can be specified as RNAME[:STARTPOS[-ENDPOS]]. Multiple regions should be seperated by space",
+                    "fa_icon": "fas fa-align-center"
+                },
                 "run_mt_for_wes": {
                     "type": "boolean",
                     "description": "Specifies whether to run mitochondrial analysis for wes samples",

subworkflows/local/align.nf

@@ -70,7 +70,7 @@ workflow ALIGN {
             ch_bwamem2_bai = ALIGN_BWA_BWAMEM2_BWAMEME.out.marked_bai
             ch_versions    = ch_versions.mix(ALIGN_BWA_BWAMEM2_BWAMEME.out.versions)
         } else if (params.aligner.equals("sentieon")) {
-            ALIGN_SENTIEON (            // Triggered when params.aligner is set as sentieon
+            ALIGN_SENTIEON (                        // Triggered when params.aligner is set as sentieon
                 ch_reads,
                 ch_genome_fasta,
                 ch_genome_fai,

subworkflows/local/alignment/align_bwa_bwamem2_bwameme.nf

@@ -7,9 +7,11 @@ include { BWA_MEM as BWAMEM_FALLBACK               } from '../../../modules/nf-c
 include { BWAMEM2_MEM                              } from '../../../modules/nf-core/bwamem2/mem/main'
 include { BWAMEME_MEM                              } from '../../../modules/nf-core/bwameme/mem/main'
 include { SAMTOOLS_INDEX as SAMTOOLS_INDEX_ALIGN   } from '../../../modules/nf-core/samtools/index/main'
+include { SAMTOOLS_INDEX as SAMTOOLS_INDEX_EXTRACT } from '../../../modules/nf-core/samtools/index/main'
 include { SAMTOOLS_INDEX as SAMTOOLS_INDEX_MARKDUP } from '../../../modules/nf-core/samtools/index/main'
 include { SAMTOOLS_STATS                           } from '../../../modules/nf-core/samtools/stats/main'
 include { SAMTOOLS_MERGE                           } from '../../../modules/nf-core/samtools/merge/main'
+include { SAMTOOLS_VIEW as EXTRACT_ALIGNMENTS      } from '../../../modules/nf-core/samtools/view/main'
 include { PICARD_MARKDUPLICATES as MARKDUPLICATES  } from '../../../modules/nf-core/picard/markduplicates/main'
 
 
@@ -82,6 +84,14 @@ workflow ALIGN_BWA_BWAMEM2_BWAMEME {
         SAMTOOLS_MERGE ( bams.multiple, ch_genome_fasta, ch_genome_fai )
         prepared_bam = bams.single.mix(SAMTOOLS_MERGE.out.bam)
 
+        // GET ALIGNMENT FROM PRIMARY CONTIGS
+        if (params.extract_alignments) {
+            SAMTOOLS_INDEX_EXTRACT ( prepared_bam )
+            extract_bam_sorted_indexed = prepared_bam.join(SAMTOOLS_INDEX_EXTRACT.out.bai, failOnMismatch:true, failOnDuplicate:true)
+            EXTRACT_ALIGNMENTS( extract_bam_sorted_indexed, ch_genome_fasta, [])
+            prepared_bam = EXTRACT_ALIGNMENTS.out.bam
+        }
+
         // Marking duplicates
         MARKDUPLICATES ( prepared_bam , ch_genome_fasta, ch_genome_fai )
         SAMTOOLS_INDEX_MARKDUP ( MARKDUPLICATES.out.bam )

subworkflows/local/alignment/align_sentieon.nf

@@ -2,10 +2,13 @@
 // A subworkflow to annotate structural variants.
 //
 
-include { SENTIEON_BWAMEM         } from '../../../modules/nf-core/sentieon/bwamem/main'
-include { SENTIEON_DATAMETRICS    } from '../../../modules/nf-core/sentieon/datametrics/main'
-include { SENTIEON_DEDUP          } from '../../../modules/nf-core/sentieon/dedup/main'
-include { SENTIEON_READWRITER     } from '../../../modules/nf-core/sentieon/readwriter/main'
+include { SENTIEON_BWAMEM                          } from '../../../modules/nf-core/sentieon/bwamem/main'
+include { SENTIEON_DATAMETRICS                     } from '../../../modules/nf-core/sentieon/datametrics/main'
+include { SENTIEON_DEDUP                           } from '../../../modules/nf-core/sentieon/dedup/main'
+include { SENTIEON_READWRITER                      } from '../../../modules/nf-core/sentieon/readwriter/main'
+include { SAMTOOLS_VIEW as EXTRACT_ALIGNMENTS      } from '../../../modules/nf-core/samtools/view/main'
+include { SAMTOOLS_INDEX as SAMTOOLS_INDEX_EXTRACT } from '../../../modules/nf-core/samtools/index/main'
+
 workflow ALIGN_SENTIEON {
     take:
         ch_reads_input     // channel: [mandatory] [ val(meta), path(reads_input) ]
@@ -36,6 +39,14 @@ workflow ALIGN_SENTIEON {
         SENTIEON_READWRITER ( merge_bams_in.multiple, ch_genome_fasta, ch_genome_fai )
         ch_bam_bai = merge_bams_in.single.mix(SENTIEON_READWRITER.out.output_index)
 
+        // GET ALIGNMENT FROM PRIMARY CONTIGS
+        if (params.extract_alignments) {
+            EXTRACT_ALIGNMENTS( ch_bam_bai, ch_genome_fasta, [])
+            ch_bam_bai = EXTRACT_ALIGNMENTS.out.bam
+            SAMTOOLS_INDEX_EXTRACT ( EXTRACT_ALIGNMENTS.out.bam )
+            ch_bam_bai = EXTRACT_ALIGNMENTS.out.bam.join(SAMTOOLS_INDEX_EXTRACT.out.bai, failOnMismatch:true, failOnDuplicate:true)
+        }
+
         SENTIEON_DATAMETRICS ( ch_bam_bai, ch_genome_fasta, ch_genome_fai, false )
 
         SENTIEON_DEDUP ( ch_bam_bai, ch_genome_fasta, ch_genome_fai )