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Updated main README to reflect new wiki.
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TimD1 committed Feb 8, 2024
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* [Introduction](#introduction)
* [Installation](#installation)
* [Usage](#usage)
* [Acknowledgements](#acknowledgements)
* [Limitations](#limitations)
* [Wiki](#wiki)
* [License](#license)


Expand All @@ -24,11 +23,11 @@ vcfdist is a distance-based **germline variant calling evaluation tool** that:

This results in more stable and accurate SNP, INDEL, and SV precision-recall curves than previous work, particularly when complex variants are involved.

This project is currently under active development. We welcome the submission of any feedback, issues, or suggestions for improvement!
This project is currently under active development. We welcome the submission of any feedback, issues, or suggestions for improvement! Check out the [wiki](https://github.com/TimD1/vcfdist/wiki) for more information.


### Citation
Please cite the following work if you use vcfdist:
Please cite the following works if you use vcfdist:

<details>
<summary>
Expand All @@ -51,11 +50,29 @@ Please cite the following work if you use vcfdist:
</pre>
</details>

<details>
<summary>
<a href="https://doi.org/10.1101/2024.01.23.575922" target="_blank"><b>[bioRxiv]</b> Jointly benchmarking small and structural variant calls with vcfdist</a>
</summary>

<pre>
@article{dunn2024vcfdist,
author={Dunn, Tim and Zook, Justin M and Holt, James M and Narayanasamy, Satish},
title={Jointly benchmarking small and structural variant calls with vcfdist},
journal={bioRxiv},
year={2024},
publisher={Cold Spring Harbor Laboratory},
doi={10.1101/2024.01.23.575922},
URL={https://doi.org/10.1101/2024.01.23.575922}
}
</pre>
</details>


## Installation

### Option 1: GitHub Source
vcfdist is developed for Linux and its only dependencies are GCC v8+ and HTSlib. Please note that on Mac, `g++` is aliased to `clang`, which is currently not supported. If you don't have HTSlib already, please set it up as follows:
vcfdist is developed for Linux and its only dependencies are GCC v8+ and HTSlib. If you don't have HTSlib already, please set it up as follows:
```bash
> wget https://github.com/samtools/htslib/releases/download/1.17/htslib-1.17.tar.bz2
> tar -xvf htslib-1.17.tar.bz2
Expand Down Expand Up @@ -96,26 +113,30 @@ vcfdist \
-v 0
```

You can expect to see <a href="./demo/output.txt">this output</a>.
<!--- You can expect to see <a href="./demo/output.txt">this output</a>. -->
You can expect to see the following output:
```
PRECISION-RECALL SUMMARY
To include more details on intermediate results, run it again at higher verbosity by removing the `-v 0` flag.
Please note that your results may not be identical, since vcfdist is under active development and handling of edge-cases may differ between versions.
TYPE THRESHOLD TRUTH_TP QUERY_TP TRUTH_FN QUERY_FP PREC RECALL F1_SCORE F1_QSCORE
SNP NONE Q >= 0 8222 8222 1 2 0.9997 0.9998 0.9998 37.3885
SNP BEST Q >= 0 8222 8222 1 2 0.9997 0.9998 0.9998 37.3885
Please see additional options documented <a href="./src/README.md">here</a>, or run `vcfdist --help`.
INDEL NONE Q >= 0 876 876 51 12 0.9864 0.9449 0.9652 14.5953
INDEL BEST Q >= 0 876 876 51 12 0.9864 0.9449 0.9652 14.5953
The output TSV files are documented <a href="./docs/outputs.md">here</a>.
SV NONE Q >= 0 0 0 0 0 1.0000 1.0000 1.0000 100.000
SV BEST Q >= 0 0 0 0 0 1.0000 1.0000 1.0000 100.000
Find out more information on using `hap.py` to stratify variants <a href="./docs/stratification.md">here</a>.
ALL NONE Q >= 0 9098 9098 52 14 0.9984 0.9943 0.9963 24.4200
ALL BEST Q >= 0 9098 9098 52 14 0.9984 0.9943 0.9963 24.4200
```

To include more details on intermediate results, run it again at higher verbosity by removing the `-v 0` flag.

## Acknowledgements
Datasets used in the evaluation of the accompanying paper are listed <a href="./data/README.md">here</a>.
## Wiki

## Limitations
The current version of vcfdist is not designed to support:
- overlapping or unphased variants
- polyploid contigs
- somatic variants
The [vcfdist wiki](https://github.com/TimD1/vcfdist/wiki) is currently a work-in-progress, but has helpful information on [command-line parameters](https://github.com/TimD1/vcfdist/wiki/02-Parameters-and-Usage) and [output documentation](https://github.com/TimD1/vcfdist/wiki/09-Outputs). If something isn't covered yet, just start a [discussion](https://github.com/TimD1/vcfdist/discussions) or file an [issue](https://github.com/TimD1/vcfdist/issues) and I'd be happy to answer.

## License
This project is covered under the <a href="LICENSE">GNU GPL v3</a> license.
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