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# Byte-compiled / optimized / DLL files | ||
__pycache__/ | ||
*.py[cod] | ||
*$py.class | ||
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# C extensions | ||
*.so | ||
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# Distribution / packaging | ||
.Python | ||
mlruns/ | ||
build/ | ||
develop-eggs/ | ||
dist/ | ||
downloads/ | ||
eggs/ | ||
.eggs/ | ||
lib/ | ||
lib64/ | ||
parts/ | ||
sdist/ | ||
var/ | ||
wheels/ | ||
pip-wheel-metadata/ | ||
share/python-wheels/ | ||
*.egg-info/ | ||
.installed.cfg | ||
*.egg | ||
MANIFEST | ||
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# PyInstaller | ||
# Usually these files are written by a python script from a template | ||
# before PyInstaller builds the exe, so as to inject date/other infos into it. | ||
*.manifest | ||
*.spec | ||
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# Installer logs | ||
pip-log.txt | ||
pip-delete-this-directory.txt | ||
logs/ | ||
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# Unit test / coverage reports | ||
htmlcov/ | ||
.tox/ | ||
.nox/ | ||
.coverage | ||
.coverage.* | ||
.cache | ||
nosetests.xml | ||
coverage.xml | ||
*.cover | ||
*.py,cover | ||
.hypothesis/ | ||
.pytest_cache/ | ||
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# Translations | ||
*.mo | ||
*.pot | ||
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# Django stuff: | ||
*.log | ||
local_settings.py | ||
db.sqlite3 | ||
db.sqlite3-journal | ||
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# Flask stuff: | ||
instance/ | ||
.webassets-cache | ||
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# Scrapy stuff: | ||
.scrapy | ||
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# Sphinx documentation | ||
docs/_build/ | ||
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# PyBuilder | ||
target/ | ||
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# Jupyter Notebook | ||
.ipynb_checkpoints | ||
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# IPython | ||
profile_default/ | ||
ipython_config.py | ||
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# pyenv | ||
.python-version | ||
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# pipenv | ||
# According to pypa/pipenv#598, it is recommended to include Pipfile.lock in version control. | ||
# However, in case of collaboration, if having platform-specific dependencies or dependencies | ||
# having no cross-platform support, pipenv may install dependencies that don't work, or not | ||
# install all needed dependencies. | ||
#Pipfile.lock | ||
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# PEP 582; used by e.g. github.com/David-OConnor/pyflow | ||
__pypackages__/ | ||
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# Celery stuff | ||
celerybeat-schedule | ||
celerybeat.pid | ||
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# SageMath parsed files | ||
*.sage.py | ||
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# Environments | ||
.env | ||
.venv | ||
env/ | ||
venv/ | ||
ENV/ | ||
env.bak/ | ||
venv.bak/ | ||
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# Spyder project settings | ||
.spyderproject | ||
.spyproject | ||
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# Rope project settings | ||
.ropeproject | ||
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# mkdocs documentation | ||
/site | ||
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# mypy | ||
.mypy_cache/ | ||
.dmypy.json | ||
dmypy.json | ||
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# Pyre type checker | ||
.pyre/ |
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# Confirmed Variant Recommendation System (ASC3) | ||
Disease similarity (22-3Q-OKR13) | ||
: API to calcualting disease similarity to server GEBRA webpage using TCP socket (https://gebra.io). API requires three data modal including ACMG baysian score, semantic simiarity based on HPO ontology, and etc With these scores, model based on linear regression return disesase similartiy score. | ||
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## Contents | ||
- `/ASC3`: 변이추천시스템의 구동 폴더 | ||
- `/ASC3/__main__.py`: ASC3 폴더를 동작시기 위한 최상위 코드 (app.py을 구동) | ||
- `/ASC3/app.py`: FastAPI을 동작시키는 메인 모듈 | ||
- `/ASC3/models.py`: 쿼리 변이들과 변이들의 특징값을 인자로하여 컨펌 변이의 확률을 추론하는 추론기 | ||
- `/ASC3/utils.py`: 로깅과 YAML파일을 로딩하는 유틸 | ||
- `/ASC3/logs`: 로그 폴더 | ||
- `/validation`: Validation 샘플과 모델 서치를 하기 위한 폴더 | ||
- `/anaylsis_code`: 통계량 분석을 위한 ipynb을 담고 있는 폴더 | ||
``` | ||
. | ||
├── ASC3 | ||
│ ├── __main__.py | ||
│ ├── app.py | ||
│ ├── models.py | ||
│ ├── config.yaml | ||
│ ├── routers.py | ||
│ ├── utils.py | ||
│ ├── logs | ||
│ └── tests | ||
├── anaylsis_code | ||
├── backup | ||
├── data | ||
│ └── validation_samples | ||
├── README.md | ||
├── requirements.txt | ||
└── validation | ||
├── config.yaml | ||
├── mlruns | ||
├── model_search_with_mlflow.py | ||
├── tests | ||
├── validation_samples_generator.py | ||
├── validation_utils.py | ||
└── validator.py | ||
``` | ||
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## Requirement | ||
1. PyYAML | ||
2. locust | ||
3. Python3.7 ~ | ||
4. sklearn >= 0.24.2 | ||
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## Install | ||
TODO | ||
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## How to use? | ||
For server (Linux) | ||
``` | ||
$ python3 ASC3 | ||
``` | ||
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For client | ||
``` | ||
curl -X 'POST' \ | ||
'https://127.0.0.1:8000/predict' \ | ||
-H 'accept: application/json' \ | ||
-H 'Content-Type: application/json' \ | ||
-d '{ | ||
"sample_id": "TEST_SAMPLE", | ||
"inhouse_total_ac": 100, | ||
"gene_diseases": { | ||
"OMIM:600276-OMIM:125310": { | ||
"1-100-A-T": { | ||
"acmg_bayesian": 1, | ||
"qual": 1271.77, | ||
"ad": "287.27", | ||
"dp": 129.0, | ||
"disease_similarity": 3.09534946, | ||
"inhouse_variant_ac": 237 | ||
}, | ||
"1-200-A-T": { | ||
"acmg_bayesian": 0.99409, | ||
"qual": 1271.77, | ||
"ad": "287.27", | ||
"dp": 129.0, | ||
"disease_similarity": 5.09534946, | ||
"inhouse_variant_ac": 3 | ||
} | ||
}, | ||
"OMIM:12367-OMIM:23223": { | ||
"3-100-A-T": { | ||
"acmg_bayesian": 0.99409, | ||
"qual": 1271.77, | ||
"ad": "287.27", | ||
"dp": 129.0, | ||
"disease_similarity": -1.09534946, | ||
"inhouse_variant_ac": 237 | ||
}, | ||
"3-200-A-T": { | ||
"acmg_bayesian": 0.99409, | ||
"qual": 1271.77, | ||
"ad": "287.27", | ||
"dp": 129.0, | ||
"disease_similarity": -1.09534946, | ||
"inhouse_variant_ac": 237 | ||
} | ||
} | ||
} | ||
} | ||
' | ||
``` | ||
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## Credit | ||
- Heon | ||
- Isaac | ||
- Tyler | ||
- Kyle | ||
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Reviwed by seom, jame | ||
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## License | ||
todo |
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