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fellen31 committed Nov 5, 2024
1 parent 1607f42 commit f90fd75
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24 changes: 12 additions & 12 deletions docs/output.md
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Expand Up @@ -163,21 +163,21 @@ If the pipeline is run with phasing, the aligned reads will be happlotagged usin

Merged variants per family are only output without annotation if `--skip_repeat_annotation` is true. Variants per sample are always output without annotation.

| Path | Description |
| ------------------------------------------------------- | ----------------------------------------- |
| `repeats/{family}/{family}_repeat_expansions.vcf.gz` | Merged VCF file per family |
| `repeats/{family}/{family_repeat_expansions.vcf.gz.tbi` | Index of the VCF file |
| `repeats/sample/{sample}/*.vcf.gz` | VCF file with called repeats for a sample |
| `repeats/sample/{sample}/*.vcf.gz.tbi` | Index of the VCF file |
| `repeats/sample/{sample}/*.bam` | BAM file with sorted spanning reads |
| `repeats/sample/{sample}/*.bai` | Index of the BAM file |
| Path | Description |
| -------------------------------------------------------- | ----------------------------------------- |
| `repeats/{family}/{family}_repeat_expansions.vcf.gz` | Merged VCF file per family |
| `repeats/{family}/{family}_repeat_expansions.vcf.gz.tbi` | Index of the VCF file |
| `repeats/sample/{sample}/{sample}_sorted.vcf.gz` | VCF file with called repeats for a sample |
| `repeats/sample/{sample}/{sample}_sorted.vcf.gz.tbi` | Index of the VCF file |
| `repeats/sample/{sample}/{sample}_spanning_sorted.bam` | BAM file with sorted spanning reads |
| `repeats/sample/{sample}/{sample}_spanning_sorted.bai` | Index of the BAM file |

[Stranger](https://github.com/Clinical-Genomics/stranger) is used to annotate repeats.

| Path | Description |
| --------------------------------------------------------------------------- | ------------------------------------- |
| `repeat_expansions/{family}/{family}_repeat_expansions_annotated.vcf.gz` | Merged, annotated VCF file per family |
| `repeat_expansions/{family}/{family_repeat_expansions_annotated.vcf.gz.tbi` | Index of the VCF file |
| Path | Description |
| ---------------------------------------------------------------------------- | ------------------------------------- |
| `repeat_expansions/{family}/{family}_repeat_expansions_annotated.vcf.gz` | Merged, annotated VCF file per family |
| `repeat_expansions/{family}/{family}_repeat_expansions_annotated.vcf.gz.tbi` | Index of the VCF file |

### SNVs

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3 changes: 1 addition & 2 deletions tests/.nftignore
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Expand Up @@ -13,7 +13,6 @@ qc/cramino/**/*.txt
qc/fastqc/**/*.{zip,html}
qc/somalier/**/*.{html,tsv}
qc/deepvariant_vcfstatsreport/**/*.html
repeat_annotation/**/*.{vcf.gz,tbi}
repeat_calling/**/*.{vcf.gz,tbi,bam,bai}
repeats/**/*.{vcf.gz,tbi,bam,bai}
snvs/**/*.{vcf.gz,tbi,txt}
svs/**/*.{vcf.gz,tbi}
10 changes: 4 additions & 6 deletions tests/samplesheet.nf.test.snap
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Expand Up @@ -435,12 +435,6 @@
"HG002_Revio.regions.bed.gz.csi:md5,026eef1c69fb4aa3a1687463fe2088ab",
"HG002_Revio_stats.blocks.tsv:md5,e73960d863a78848498499480ea9937f",
"HG002_Revio_stats.stats.tsv:md5,cffa4a500350b2227ab40bbbe428e9ef",
"FAM_repeats_annotated.vcf.gz:md5,eefc76d462d032dca899530c9b5d28e3",
"FAM_repeats_annotated.vcf.gz.tbi:md5,fc30f983abc683359d12dbfb3e45497d",
"HG002_Revio_sorted.vcf.gz:md5,a44d6d7fa3ff96fe1c77f0b045cfb46f",
"HG002_Revio_sorted.vcf.gz.tbi:md5,60d7a65d9a296bde30aefa38918feb88",
"HG002_Revio_spanning_sorted.bam:md5,468a86260e36702416d8ee01317eda1c",
"HG002_Revio_spanning_sorted.bam.bai:md5,6733ea2585a20aaa93aa40b1437e7440",
"HG002_Revio_hificnv.copynum.bedgraph:md5,517bc59c1b235490c79aa8319437b033",
"HG002_Revio_hificnv.depth.bw:md5,70211e34c58cd83f6c9c6f2a8bda4a3b",
"HG002_Revio_hificnv.maf.bw:md5,8340a82b7b3da36383511631ed21066c"
Expand Down Expand Up @@ -536,6 +530,10 @@
"nf-test": "0.9.0",
"nextflow": "24.04.4"
},
<<<<<<< HEAD
"timestamp": "2024-11-05T13:41:06.05402932"
=======
"timestamp": "2024-11-04T17:27:22.813993718"
>>>>>>> 7691a30 (docs)
}
}
14 changes: 4 additions & 10 deletions tests/samplesheet_multisample_bam.nf.test.snap
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Expand Up @@ -554,16 +554,6 @@
"HG002_Revio_A_stats.stats.tsv:md5,1504949804b510cc57d20e2c78fb7294",
"HG002_Revio_B_stats.blocks.tsv:md5,df646f43e67f37df5a9ec148e431d4c3",
"HG002_Revio_B_stats.stats.tsv:md5,40994b57e7c0bafee411bc2ad6ffb79d",
"FAM_repeats_annotated.vcf.gz:md5,73f3582df9154e936eb523c0b3ea8edb",
"FAM_repeats_annotated.vcf.gz.tbi:md5,ef6bee507dcb164cea090fa5d8903dad",
"HG002_Revio_A_sorted.vcf.gz:md5,105ece371d6751f331c56734ee1a6b1f",
"HG002_Revio_A_sorted.vcf.gz.tbi:md5,7d8c345b22657d134a02d5a450815f99",
"HG002_Revio_A_spanning_sorted.bam:md5,7c823225e5598dcb6eef92d6953cdd6f",
"HG002_Revio_A_spanning_sorted.bam.bai:md5,1b407bbf2ee1627219e3b251ae385817",
"HG002_Revio_B_sorted.vcf.gz:md5,79317b06924078e48f9e69f2ad596351",
"HG002_Revio_B_sorted.vcf.gz.tbi:md5,7d8c345b22657d134a02d5a450815f99",
"HG002_Revio_B_spanning_sorted.bam:md5,152e46b8c76b5e3ecd01ec3323a83474",
"HG002_Revio_B_spanning_sorted.bam.bai:md5,1899c77316d90521e2d28967f35fabf6",
"HG002_Revio_A_hificnv.copynum.bedgraph:md5,517bc59c1b235490c79aa8319437b033",
"HG002_Revio_A_hificnv.depth.bw:md5,70211e34c58cd83f6c9c6f2a8bda4a3b",
"HG002_Revio_A_hificnv.maf.bw:md5,8340a82b7b3da36383511631ed21066c",
Expand Down Expand Up @@ -726,6 +716,10 @@
"nf-test": "0.9.0",
"nextflow": "24.04.4"
},
<<<<<<< HEAD
"timestamp": "2024-11-05T13:42:51.526893089"
=======
"timestamp": "2024-11-04T17:30:31.18296401"
>>>>>>> 7691a30 (docs)
}
}

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