Skip to content
Snippets Groups Projects
Commit 0c4cb949 authored by Sander Bollen's avatar Sander Bollen
Browse files

reference module

parent 2ac12ea5
No related branches found
No related tags found
No related merge requests found
......@@ -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 },
......
......@@ -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 },
......
......@@ -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": {
......
......@@ -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",
......
......@@ -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.
......
0% Loading or .
You are about to add 0 people to the discussion. Proceed with caution.
Finish editing this message first!
Please register or to comment