{ "info": { "author": "LUMC, Jonathan K. Vis", "author_email": "j.k.vis@lumc.nl", "bugtrack_url": null, "classifiers": [ "Development Status :: 3 - Alpha", "Intended Audience :: Developers", "Intended Audience :: Science/Research", "Operating System :: OS Independent", "Programming Language :: C++", "Programming Language :: Python", "Programming Language :: Python :: 2", "Programming Language :: Python :: 2.6", "Programming Language :: Python :: 2.7", "Programming Language :: Python :: 3", "Programming Language :: Python :: 3.3", "Programming Language :: Python :: 3.4", "Programming Language :: Python :: 3.5", "Topic :: Scientific/Engineering" ], "description": "# HGVS variant description extractor\n\nUnambiguous sequence variant descriptions are important in reporting\nthe outcome of clinical diagnostic DNA tests. The standard\nnomenclature of the Human Genome Variation Society (HGVS) describes\nthe observed variant sequence relative to a given reference sequence.\nWe propose an efficient algorithm for the extraction of\nHGVS descriptions from two sequences with three main requirements in\nmind: minimizing the length of the resulting descriptions, minimizing\nthe computation time, and keeping the unambiguous descriptions\nbiologically meaningful.\n\nThis algorithm is able to compute the HGVS descriptions of complete\nchromosomes or other large DNA strings in a reasonable amount of\ncomputation time and its resulting descriptions are relatively small.\nAdditional applications include updating of gene variant database\ncontents and reference sequence liftovers.\n\n >>> from extractor import describe_dna\n >>> print describe_dna('TAACAATGGAAC', 'TAAACAATTGAA')\n [3dup;8G>T;12del]\n\n\n## Implementation\n\nThe core algorithm is implemented in C++ with a Python wrapper providing a\ndeveloper friendly interface.\n\n\n## Installation\n\n### Python package\n\nYou need [SWIG](http://www.swig.org/) installed. Then:\n\n pip install description-extractor\n\n\n### C++ library only\n\nRun `make`.\n\nOptionally set the `__debug__` flag to trace the algorithm.\n\nFor direct use within a C/C++ environment just\n`#include \"extractor.h\"` and add `extractor.cc` to your project's\nsource files.\n\n\n## Testing\n\nThere are some unit tests for the Python interface. After installing the\nPython package, run them using [pytest](http://pytest.org/):\n\n pip install pytest\n python setup.py develop\n py.test\n\nAlternatively, use [tox](https://tox.readthedocs.org/) to automatically run\nthe tests on all supported versions of Python:\n\n pip install tox\n tox", "description_content_type": null, "docs_url": null, "download_url": "UNKNOWN", "downloads": { "last_day": -1, "last_month": -1, "last_week": -1 }, "home_page": "https://github.com/mutalyzer/description-extractor", "keywords": "bioinformatics", "license": "MIT License", "maintainer": null, "maintainer_email": null, "name": "description-extractor", "package_url": "https://pypi.org/project/description-extractor/", "platform": "any", "project_url": "https://pypi.org/project/description-extractor/", "project_urls": { "Download": "UNKNOWN", "Homepage": "https://github.com/mutalyzer/description-extractor" }, "release_url": "https://pypi.org/project/description-extractor/2.3.5/", "requires_dist": null, 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