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Add publication and release of Farhat lab RLC, update TBProfiler drug…
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… resistance regions
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pvanheus committed Dec 18, 2022
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9 changes: 4 additions & 5 deletions README.md
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Expand Up @@ -7,7 +7,7 @@ This tool offers multiple options for filtering variants (in VCF files, relative
It currently has 5 main modes:

1. Filter by region. Mask out variants in certain regions. Region lists available as:
1. `farhat_rlc`: Refined Low Confidence regions from [Marin et al](https://www.biorxiv.org/content/10.1101/2021.04.08.438862v1.full)
1. `farhat_rlc` and `farhat_rlc_lowmap`: Refined Low Confidence (RLC) and RLC plus low mappability regions from [Marin et al](https://doi.org/10.1093/bioinformatics/btac023)
1. `pe_ppe`: PE/PPE genes from [Fishbein et al 2015](https://onlinelibrary.wiley.com/doi/full/10.1111/mmi.12981)
2. `tbprofiler`: [TBProfiler](http://tbdr.lshtm.ac.uk/) list of antibiotic resistant genes
3. `mtbseq`: [MTBseq](https://github.com/ngs-fzb/MTBseq_source) list of antibiotic resistant genes
Expand Down Expand Up @@ -80,12 +80,12 @@ To export a region (from the list of possible region masks) in BED format, use t

```
usage: tb_region_list_to_bed [-h] [--chromosome_name CHROMOSOME_NAME]
{farhat_rlc, mtbseq,pe_ppe,tbprofiler,uvp} [output_file]
{farhat_rlc,farhat_rlc_lowmap,mtbseq,pe_ppe,tbprofiler,uvp} [output_file]
Output region filter in BED format
positional arguments:
{mtbseq,pe_ppe,tbprofiler,uvp}
{farhat_rlc,farhat_rlc_lowmap,mtbseq,pe_ppe,tbprofiler,uvp}
Name of region list
output_file File to write output to
Expand All @@ -98,8 +98,7 @@ optional arguments:
### Testing and development environment

The repository contains a file, [test_environment.yml](test_environment.yml), for creating a [conda](https://docs.conda.io/en/latest/#)
environment for testing and development. Tests can be run with `pytest` and `tox`, where `tox` also uses conda
to create the testing environment.
environment for testing and development. Tests can be run with `pytest` and `tox`, where `tox` also uses conda to create the testing environment.

For some tests, locus locations are looked up using the [COMBAT-TB NeoDB](https://combattb.org/combat-tb-neodb/). This requires an
environment variable, `COMBATTB_BOLT_URL`. If this is not set, tests requiring this lookup are skipped. The default in `tox.ini` uses the [SANBI](https://www.sanbi.ac.za/) hosted NeoDB instance.
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