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version: 2 | ||
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build: | ||
os: "ubuntu-20.04" | ||
tools: | ||
python: "3.11" | ||
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python: | ||
install: | ||
- method: pip | ||
path: . | ||
extra_requirements: | ||
- docs | ||
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sphinx: | ||
configuration: docs/source/conf.py |
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# **C**ommon **O**perations **O**n **L**ots-of **Seq**uences Tool | ||
<h1 align="center"> | ||
CoolSeqTool | ||
</h1> | ||
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The **cool-seq-tool** provides: | ||
**[Documentation](#)** · [Installation](#) · [Usage](#) · [API reference](#) | ||
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- Transcript alignment data from the [UTA](https://github.com/biocommons/uta) database | ||
- Fast access to sequence data using [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) | ||
- Liftover between assemblies (GRCh38 <--> GRCh37) from [PyLiftover](https://github.com/konstantint/pyliftover) | ||
- Lifting over to preferred [MANE](https://www.ncbi.nlm.nih.gov/refseq/MANE/) compatible transcript. See [here](docs/TranscriptSelectionPriority.md) for more information. | ||
## Overview | ||
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## Installation | ||
<!-- description --> | ||
The **CoolSeqTool** provides: | ||
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### pip | ||
- A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and the [Universal Transcript Archive](https://github.com/biocommons/uta) | ||
- Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools | ||
- Mapping tools that combine the above to support translation between references sequences, annotation layers, and MANE transcripts | ||
<!-- /description --> | ||
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```commandline | ||
pip install cool-seq-tool[dev,tests] | ||
``` | ||
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### Development | ||
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Clone the repo: | ||
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```commandline | ||
git clone https://github.com/GenomicMedLab/cool-seq-tool | ||
cd cool_seq_tool | ||
``` | ||
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[Install Pipenv](https://pipenv-fork.readthedocs.io/en/latest/#install-pipenv-today) if necessary. | ||
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Install backend dependencies and enter Pipenv environment: | ||
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```commandline | ||
pipenv shell | ||
pipenv update | ||
pipenv install --dev | ||
``` | ||
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### UTA Database Installation | ||
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`cool-seq-tool` uses intalls local UTA database. For other ways to install, visit [biocommons.uta](https://github.com/biocommons/uta). | ||
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#### Local Installation | ||
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_The following commands will likely need modification appropriate for the installation environment._ | ||
1. Install [PostgreSQL](https://www.postgresql.org/) | ||
2. Create user and database. | ||
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``` | ||
$ createuser -U postgres uta_admin | ||
$ createuser -U postgres anonymous | ||
$ createdb -U postgres -O uta_admin uta | ||
``` | ||
3. To install locally, from the _cool_seq_tool/data_ directory: | ||
``` | ||
export UTA_VERSION=uta_20210129b.pgd.gz | ||
curl -O https://dl.biocommons.org/uta/$UTA_VERSION | ||
gzip -cdq ${UTA_VERSION} | grep -v "^REFRESH MATERIALIZED VIEW" | psql -h localhost -U uta_admin --echo-errors --single-transaction -v ON_ERROR_STOP=1 -d uta -p 5433 | ||
``` | ||
##### UTA Installation Issues | ||
If you have trouble installing UTA, you can visit [these two READMEs](https://github.com/ga4gh/vrs-python/tree/main/docs/setup_help). | ||
#### Connecting to the database | ||
To connect to the UTA database, you can use the default url (`postgresql://uta_admin:uta@localhost:5433/uta/uta_20210129b`). | ||
If you do not wish to use the default, you must set the environment variable `UTA_DB_URL` which has the format of `driver://user:password@host:port/database/schema`. | ||
### Data Downloads | ||
--- | ||
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#### SeqRepo | ||
`cool-seq-tool` relies on [seqrepo](https://github.com/biocommons/biocommons.seqrepo), which you must download yourself. | ||
## Install | ||
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Use the `SEQREPO_ROOT_DIR` environment variable to set the path of an already existing SeqRepo directory. The default is `/usr/local/share/seqrepo/latest`. | ||
CoolSeqTool is available on [PyPI](https://pypi.org/project/cool-seq-tool) | ||
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From the _root_ directory: | ||
```shell | ||
python3 -m pip install cool-seq-tool | ||
``` | ||
pip install seqrepo | ||
sudo mkdir /usr/local/share/seqrepo | ||
sudo chown $USER /usr/local/share/seqrepo | ||
seqrepo pull -i 2021-01-29 # Replace with latest version using `seqrepo list-remote-instances` if outdated | ||
``` | ||
If you get an error similar to the one below: | ||
``` | ||
PermissionError: [Error 13] Permission denied: '/usr/local/share/seqrepo/2021-01-29._fkuefgd' -> '/usr/local/share/seqrepo/2021-01-29' | ||
``` | ||
You will want to do the following:\ | ||
(*Might not be ._fkuefgd, so replace with your error message path*) | ||
```console | ||
sudo mv /usr/local/share/seqrepo/2021-01-29._fkuefgd /usr/local/share/seqrepo/2021-01-29 | ||
exit | ||
``` | ||
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#### LRG_RefSeqGene | ||
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`cool-seq-tool` fetches the latest version of `LRG_RefSeqGene` if the environment variable `LRG_REFSEQGENE_PATH` is not set. When `LRG_REFSEQGENE_PATH` is set, `cool-seq-tool` will look at this path and expect the LRG_RefSeqGene file. This file is found can be found [here](https://ftp.ncbi.nlm.nih.gov/refseq/H_sapiens/RefSeqGene). | ||
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#### MANE Summary Data | ||
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`cool-seq-tool` fetches the latest version of `MANE.GRCh38.*.summary.txt.gz` if the environment variable `MANE_SUMMARY_PATH` is not set. When `MANE_SUMMARY_PATH` is set, `cool-seq-tool` will look at this path and expect the MANE Summary Data file. This file is found can be found [here](https://ftp.ncbi.nlm.nih.gov/refseq/MANE/MANE_human/current/). | ||
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#### transcript_mapping.tsv | ||
`cool-seq-tool` is packaged with transcript mapping data acquired from [Ensembl BioMart](http://www.ensembl.org/biomart/martview). If the environment variable `TRANSCRIPT_MAPPINGS_PATH` is not set, `cool-seq-tool` will use the built-in file. When `TRANSCRIPT_MAPPINGS_PATH` is set, `cool_seq_tool` will look at this path and expect to find the transcript mapping TSV file. | ||
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To acquire this data manually from the [BioMart](https://www.ensembl.org/biomart/martview), select the `Human Genes (GRCh38.p13)` dataset and choose the following attributes: | ||
See the [installation instructions](#) in the documentation for a description of dependency setup requirements. | ||
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* Gene stable ID | ||
* Gene stable ID version | ||
* Transcript stable ID | ||
* Transcript stable ID version | ||
* Protein stable ID | ||
* Protein stable ID version | ||
* RefSeq match transcript (MANE Select) | ||
* Gene name | ||
--- | ||
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![image](biomart.png) | ||
## Usage | ||
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## Starting the UTA Tools Service Locally | ||
All CoolSeqTool resources can be initialized by way of a top-level class instance: | ||
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To start the service, run the following: | ||
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```commandline | ||
uvicorn cool_seq_tool.api:app --reload | ||
```pycon | ||
>>> from cool_seq_tool.app import CoolSeqTool | ||
>>> cst = CoolSeqTool() | ||
>>> result = await cst.mane_transcript.get_mane_transcript( | ||
... "NP_004324.2", | ||
... 599, | ||
... AnnotationLayer.PROTEIN, | ||
... residue_mode=ResidueMode.INTER_RESIDUE, | ||
... ) | ||
>>> result.gene, result.refseq, result.status | ||
('EGFR', 'NM_005228.5', <TranscriptPriority.MANE_SELECT: 'mane_select'>) | ||
``` | ||
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Next, view the FastAPI on your local machine: http://127.0.0.1:8000/cool_seq_tool | ||
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## Init coding style tests | ||
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Code style is managed by [Ruff](https://github.com/astral-sh/ruff) and [Black](https://github.com/psf/black), and should be checked prior to commit. | ||
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We use [pre-commit](https://pre-commit.com/#usage) to run conformance tests. | ||
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This ensures: | ||
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* Check code style | ||
* Check for added large files | ||
* Detect AWS Credentials | ||
* Detect Private Key | ||
--- | ||
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Before first commit run: | ||
## Feedback and contributing | ||
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``` | ||
pre-commit install | ||
``` | ||
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## Testing | ||
From the _root_ directory of the repository: | ||
``` | ||
pytest | ||
``` | ||
We welcome bug reports, feature requests, and code contributions from users and interested collaborators. The [documentation](#) contains guidance for submitting feedback and contributing new code. |
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