diff --git a/docs/config.md b/docs/config.md index de3342b195b1dc7acb338729792d9dabc59c5228..79bf59bedcd02c908488d9ba311ef138eac85b67 100644 --- a/docs/config.md +++ b/docs/config.md @@ -69,10 +69,18 @@ Global setting examples are: ---- +#### References +Pipelines and tools that use references should now use the reference module. This gives some more fine-grained control over references. +E.g. pipelines and tools that use a fasta references file should now set value `reference_fasta`. +Additionally, we can set `reference_name` for the name to be used (e.g. `hg19`). If unset, Biopet will default to `unknown`. +It is also possible to set the `species` flag. Again, we will default to `unknown` if unset. + #### Example settings config ~~~ { - "reference": "/references/hg19_nohap/ucsc.hg19_nohap.fasta", + "reference_fasta": "/references/hg19_nohap/ucsc.hg19_nohap.fasta", + "reference_name": "hg19_nohap", + "species": "homo_sapiens", "dbsnp": "/references/hg19_nohap/dbsnp_137.hg19_nohap.vcf", "joint_variantcalling": false, "haplotypecaller": { "scattercount": 100 }, diff --git a/docs/general/config.md b/docs/general/config.md index 10d69a2699d3a2a811d0beaa943c71a3aabdc62a..b08d11bf6ae4b03882d1007a5399b53327024ef4 100644 --- a/docs/general/config.md +++ b/docs/general/config.md @@ -69,10 +69,17 @@ Global setting examples are: ---- +#### References +Pipelines and tools that use references should now use the reference module. This gives some more fine-grained control over references. +E.g. pipelines and tools that use a fasta references file should now set value `reference_fasta`. +Additionally, we can set `reference_name` for the name to be used (e.g. `hg19`). If unset, Biopet will default to `unknown`. +It is also possible to set the `species` flag. Again, we will default to `unknown` if unset. #### Example settings config ~~~ { - "reference": "/data/LGTC/projects/vandoorn-melanoma/data/references/hg19_nohap/ucsc.hg19_nohap.fasta", + "reference_fasta": "/references/hg19_nohap/ucsc.hg19_nohap.fasta", + "reference_name": "hg19_nohap", + "species": "homo_sapiens", "dbsnp": "/data/LGTC/projects/vandoorn-melanoma/data/references/hg19_nohap/dbsnp_137.hg19_nohap.vcf", "joint_variantcalling": false, "haplotypecaller": { "scattercount": 100 }, diff --git a/docs/pipelines/gentrap.md b/docs/pipelines/gentrap.md index cfb99916cbbc063a735cbb37657df9b954f626e1..0c73201fb8c8563d4c0c554d45e8f65bd1a6fe9d 100644 --- a/docs/pipelines/gentrap.md +++ b/docs/pipelines/gentrap.md @@ -78,7 +78,7 @@ For the pipeline settings, there are some values that you need to specify while 1. `output_dir`: path to output directory (if it does not exist, Gentrap will create it for you). 2. `aligner`: which aligner to use (`gsnap` or `tophat`) -3. `reference`: this must point to a reference FASTA file and in the same directory, there must be a `.dict` file of the FASTA file. +3. `reference_fasta`: this must point to a reference FASTA file and in the same directory, there must be a `.dict` file of the FASTA file. 4. `expression_measures`: this entry determines which expression measurement modes Gentrap will do. You can choose zero or more from the following: `fragments_per_gene`, `bases_per_gene`, `bases_per_exon`, `cufflinks_strict`, `cufflinks_guided`, and/or `cufflinks_blind`. If you only wish to align, you can set the value as an empty list (`[]`). 5. `strand_protocol`: this determines whether your library is prepared with a specific stranded protocol or not. There are two protocols currently supported now: `dutp` for dUTP-based protocols and `non_specific` for non-strand-specific protocols. 6. `annotation_refflat`: contains the path to an annotation refFlat file of the entire genome @@ -100,7 +100,7 @@ Thus, an example settings configuration is as follows: "output_dir": "/path/to/output/dir", "expression_measures": ["fragments_per_gene", "bases_per_gene"], "strand_protocol": "dutp", - "reference": "/path/to/reference", + "reference_fasta": "/path/to/reference", "annotation_gtf": "/path/to/gtf", "annotation_refflat": "/path/to/refflat", "gsnap": { diff --git a/docs/pipelines/mapping.md b/docs/pipelines/mapping.md index 9365d77acbb5655ca1071c08953526f9d978cdc7..5fae9a6a64c9fc43d6c896cb34ec03a662300c33 100644 --- a/docs/pipelines/mapping.md +++ b/docs/pipelines/mapping.md @@ -42,7 +42,7 @@ All other values should be provided in the config. Specific config values toward | skip_flexiprep | Boolean (optional) | Whether to skip the flexiprep QC step (default = False) | | skip_markduplicates | Boolean (optional) | Whether to skip the Picard Markduplicates step (default = False) | | skip_metrics | Boolean (optional) | Whether to skip the metrics gathering step (default = False) | -| reference | Path (**required**) | Path to indexed fasta file to be used as reference | +| reference_fasta | Path (**required**) | Path to indexed fasta file to be used as reference | | platform | String (optional) | Read group Platform (defaults to `illumina`)| | platform_unit | String (**required**) | Read group platform unit | | readgroup_sequencing_center | String (**required**) | Read group sequencing center | @@ -60,7 +60,7 @@ Any supplied sample config will be ignored. ### Example config ```json { -"reference": "<path/to/reference">, +"reference_fasta": "<path/to/reference">, "aligner": "bwa", "skip_metrics": true, "platform": "our_platform", diff --git a/docs/pipelines/shiva.md b/docs/pipelines/shiva.md index 7fcef405da30e64314c27942580c1a845a880d7f..9f3b0076fb056289f89bd7b59e2fa757680234c1 100644 --- a/docs/pipelines/shiva.md +++ b/docs/pipelines/shiva.md @@ -105,7 +105,7 @@ To view all possible config options please navigate to our Gitlab wiki page | Namespace | Name | Type | Default | Function | | ----------- | ---- | ----- | ------- | -------- | -| shiva | reference | String | | reference to align to | +| shiva | reference_fasta | String | | reference to align to | | shiva | dbsnp | String | | vcf file of dbsnp records | | shiva | variantcallers | List[String] | | variantcaller to use, see list | | shiva | use_indel_realigner | Boolean | true | Realign indels | @@ -117,6 +117,7 @@ To view all possible config options please navigate to our Gitlab wiki page | vcffilter | min_alternate_depth | Integer | 2 | Filter variants with at least x depth on the alternate allele | | vcffilter | min_samples_pass | Integer | 1 | Minimum amount of samples which pass custom filter (requires additional flags) | | vcffilter | filter_ref_calls | Boolean | true | Remove reference calls | +| vcfstats | reference | String | Path to reference to be used by `vcfstats` | Since Shiva uses the [Mapping](../mapping.md) pipeline internally, mapping config values can be specified as well. For all the options, please see the corresponding documentation for the mapping pipeline.