Metadata-Version: 2.1
Name: hgvs
Version: 1.5.4
Summary: HGVS Parser, Formatter, Mapper, Validator
Author-email: HGVS Contributors <biocommons-dev@googlegroups.com>
License: 
                                         Apache License
                                   Version 2.0, January 2004
                                http://www.apache.org/licenses/
        
           TERMS AND CONDITIONS FOR USE, REPRODUCTION, AND DISTRIBUTION
        
           1. Definitions.
        
              "License" shall mean the terms and conditions for use, reproduction,
              and distribution as defined by Sections 1 through 9 of this document.
        
              "Licensor" shall mean the copyright owner or entity authorized by
              the copyright owner that is granting the License.
        
              "Legal Entity" shall mean the union of the acting entity and all
              other entities that control, are controlled by, or are under common
              control with that entity. For the purposes of this definition,
              "control" means (i) the power, direct or indirect, to cause the
              direction or management of such entity, whether by contract or
              otherwise, or (ii) ownership of fifty percent (50%) or more of the
              outstanding shares, or (iii) beneficial ownership of such entity.
        
              "You" (or "Your") shall mean an individual or Legal Entity
              exercising permissions granted by this License.
        
              "Source" form shall mean the preferred form for making modifications,
              including but not limited to software source code, documentation
              source, and configuration files.
        
              "Object" form shall mean any form resulting from mechanical
              transformation or translation of a Source form, including but
              not limited to compiled object code, generated documentation,
              and conversions to other media types.
        
              "Work" shall mean the work of authorship, whether in Source or
              Object form, made available under the License, as indicated by a
              copyright notice that is included in or attached to the work
              (an example is provided in the Appendix below).
        
              "Derivative Works" shall mean any work, whether in Source or Object
              form, that is based on (or derived from) the Work and for which the
              editorial revisions, annotations, elaborations, or other modifications
              represent, as a whole, an original work of authorship. For the purposes
              of this License, Derivative Works shall not include works that remain
              separable from, or merely link (or bind by name) to the interfaces of,
              the Work and Derivative Works thereof.
        
              "Contribution" shall mean any work of authorship, including
              the original version of the Work and any modifications or additions
              to that Work or Derivative Works thereof, that is intentionally
              submitted to Licensor for inclusion in the Work by the copyright owner
              or by an individual or Legal Entity authorized to submit on behalf of
              the copyright owner. For the purposes of this definition, "submitted"
              means any form of electronic, verbal, or written communication sent
              to the Licensor or its representatives, including but not limited to
              communication on electronic mailing lists, source code control systems,
              and issue tracking systems that are managed by, or on behalf of, the
              Licensor for the purpose of discussing and improving the Work, but
              excluding communication that is conspicuously marked or otherwise
              designated in writing by the copyright owner as "Not a Contribution."
        
              "Contributor" shall mean Licensor and any individual or Legal Entity
              on behalf of whom a Contribution has been received by Licensor and
              subsequently incorporated within the Work.
        
           2. Grant of Copyright License. Subject to the terms and conditions of
              this License, each Contributor hereby grants to You a perpetual,
              worldwide, non-exclusive, no-charge, royalty-free, irrevocable
              copyright license to reproduce, prepare Derivative Works of,
              publicly display, publicly perform, sublicense, and distribute the
              Work and such Derivative Works in Source or Object form.
        
           3. Grant of Patent License. Subject to the terms and conditions of
              this License, each Contributor hereby grants to You a perpetual,
              worldwide, non-exclusive, no-charge, royalty-free, irrevocable
              (except as stated in this section) patent license to make, have made,
              use, offer to sell, sell, import, and otherwise transfer the Work,
              where such license applies only to those patent claims licensable
              by such Contributor that are necessarily infringed by their
              Contribution(s) alone or by combination of their Contribution(s)
              with the Work to which such Contribution(s) was submitted. If You
              institute patent litigation against any entity (including a
              cross-claim or counterclaim in a lawsuit) alleging that the Work
              or a Contribution incorporated within the Work constitutes direct
              or contributory patent infringement, then any patent licenses
              granted to You under this License for that Work shall terminate
              as of the date such litigation is filed.
        
           4. Redistribution. You may reproduce and distribute copies of the
              Work or Derivative Works thereof in any medium, with or without
              modifications, and in Source or Object form, provided that You
              meet the following conditions:
        
              (a) You must give any other recipients of the Work or
                  Derivative Works a copy of this License; and
        
              (b) You must cause any modified files to carry prominent notices
                  stating that You changed the files; and
        
              (c) You must retain, in the Source form of any Derivative Works
                  that You distribute, all copyright, patent, trademark, and
                  attribution notices from the Source form of the Work,
                  excluding those notices that do not pertain to any part of
                  the Derivative Works; and
        
              (d) If the Work includes a "NOTICE" text file as part of its
                  distribution, then any Derivative Works that You distribute must
                  include a readable copy of the attribution notices contained
                  within such NOTICE file, excluding those notices that do not
                  pertain to any part of the Derivative Works, in at least one
                  of the following places: within a NOTICE text file distributed
                  as part of the Derivative Works; within the Source form or
                  documentation, if provided along with the Derivative Works; or,
                  within a display generated by the Derivative Works, if and
                  wherever such third-party notices normally appear. The contents
                  of the NOTICE file are for informational purposes only and
                  do not modify the License. You may add Your own attribution
                  notices within Derivative Works that You distribute, alongside
                  or as an addendum to the NOTICE text from the Work, provided
                  that such additional attribution notices cannot be construed
                  as modifying the License.
        
              You may add Your own copyright statement to Your modifications and
              may provide additional or different license terms and conditions
              for use, reproduction, or distribution of Your modifications, or
              for any such Derivative Works as a whole, provided Your use,
              reproduction, and distribution of the Work otherwise complies with
              the conditions stated in this License.
        
           5. Submission of Contributions. Unless You explicitly state otherwise,
              any Contribution intentionally submitted for inclusion in the Work
              by You to the Licensor shall be under the terms and conditions of
              this License, without any additional terms or conditions.
              Notwithstanding the above, nothing herein shall supersede or modify
              the terms of any separate license agreement you may have executed
              with Licensor regarding such Contributions.
        
           6. Trademarks. This License does not grant permission to use the trade
              names, trademarks, service marks, or product names of the Licensor,
              except as required for reasonable and customary use in describing the
              origin of the Work and reproducing the content of the NOTICE file.
        
           7. Disclaimer of Warranty. Unless required by applicable law or
              agreed to in writing, Licensor provides the Work (and each
              Contributor provides its Contributions) on an "AS IS" BASIS,
              WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or
              implied, including, without limitation, any warranties or conditions
              of TITLE, NON-INFRINGEMENT, MERCHANTABILITY, or FITNESS FOR A
              PARTICULAR PURPOSE. You are solely responsible for determining the
              appropriateness of using or redistributing the Work and assume any
              risks associated with Your exercise of permissions under this License.
        
           8. Limitation of Liability. In no event and under no legal theory,
              whether in tort (including negligence), contract, or otherwise,
              unless required by applicable law (such as deliberate and grossly
              negligent acts) or agreed to in writing, shall any Contributor be
              liable to You for damages, including any direct, indirect, special,
              incidental, or consequential damages of any character arising as a
              result of this License or out of the use or inability to use the
              Work (including but not limited to damages for loss of goodwill,
              work stoppage, computer failure or malfunction, or any and all
              other commercial damages or losses), even if such Contributor
              has been advised of the possibility of such damages.
        
           9. Accepting Warranty or Additional Liability. While redistributing
              the Work or Derivative Works thereof, You may choose to offer,
              and charge a fee for, acceptance of support, warranty, indemnity,
              or other liability obligations and/or rights consistent with this
              License. However, in accepting such obligations, You may act only
              on Your own behalf and on Your sole responsibility, not on behalf
              of any other Contributor, and only if You agree to indemnify,
              defend, and hold each Contributor harmless for any liability
              incurred by, or claims asserted against, such Contributor by reason
              of your accepting any such warranty or additional liability.
        
           END OF TERMS AND CONDITIONS
        
           APPENDIX: How to apply the Apache License to your work.
        
              To apply the Apache License to your work, attach the following
              boilerplate notice, with the fields enclosed by brackets "[]"
              replaced with your own identifying information. (Don't include
              the brackets!)  The text should be enclosed in the appropriate
              comment syntax for the file format. We also recommend that a
              file or class name and description of purpose be included on the
              same "printed page" as the copyright notice for easier
              identification within third-party archives.
        
           Copyright [yyyy] [name of copyright owner]
        
           Licensed under the Apache License, Version 2.0 (the "License");
           you may not use this file except in compliance with the License.
           You may obtain a copy of the License at
        
               http://www.apache.org/licenses/LICENSE-2.0
        
           Unless required by applicable law or agreed to in writing, software
           distributed under the License is distributed on an "AS IS" BASIS,
           WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied.
           See the License for the specific language governing permissions and
           limitations under the License.
        
Project-URL: Homepage, https://github.com/biocommons/hgvs
Project-URL: Bug Tracker, https://github.com/biocommons/hgvs/issues
Keywords: biocommons,bioinformatics,computational biology,genome variation,genomics,hgvs,variation
Classifier: Development Status :: 5 - Production/Stable
Classifier: Intended Audience :: Developers
Classifier: Intended Audience :: Healthcare Industry
Classifier: Intended Audience :: Science/Research
Classifier: License :: OSI Approved :: Apache Software License
Classifier: Operating System :: OS Independent
Classifier: Programming Language :: Python :: 3.10
Classifier: Programming Language :: Python :: 3.8
Classifier: Programming Language :: Python :: 3.9
Classifier: Programming Language :: Python :: 3
Classifier: Programming Language :: Python
Classifier: Topic :: Scientific/Engineering :: Bio-Informatics
Classifier: Topic :: Scientific/Engineering :: Medical Science Apps.
Requires-Python: >=3.6
Description-Content-Type: text/x-rst
Provides-Extra: dev
License-File: LICENSE.txt
License-File: AUTHORS

*hgvs* - manipulate biological sequence variants according to Human Genome Variation Society recommendations
!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

**Important:** biocommons packages require Python 3.6+.
`More
<https://groups.google.com/forum/#!topic/hgvs-discuss/iLUzjzoD-28>`__


The *hgvs* package provides a Python library to parse, format,
validate, normalize, and map sequence variants according to `Variation
Nomenclature`_ (aka Human Genome Variation Society) recommendations.

Specifically, the hgvs package focuses on the subset of the HGVS
recommendations that precisely describe sequence-level variation
relevant to the application of high-throughput sequencing to clinical
diagnostics.  The package does not attempt to cover the full scope of
HGVS recommendations. Please refer to `issues
<https://github.com/biocommons/hgvs/issues>`_ for limitations.


+--------------------+--------------------------------------------------------------------+
| **Information**    | | |rtd|   |changelog|  |getting_help|                              |
|                    | | |github_license|  |binder|                                       |
+--------------------+--------------------------------------------------------------------+
| **Latest Release** | |github_tag|   |pypi_rel|   |hit|                                  |
+--------------------+--------------------------------------------------------------------+
| **Development**    | | |status_rel|  |coveralls|                                        |
| (main branch)    | | | |issues|  |github_open_pr|   |github_contrib|                    |
|                    | | |github_stars|  |github_forks|                                   |
+--------------------+--------------------------------------------------------------------+



Features
@@@@@@@@

* Parsing is based on formal grammar.
* An easy-to-use object model that represents
  most variant types (SNVs, indels, dups, inverstions, etc) and
  concepts (intronic offsets, uncertain positions, intervals)
* A variant normalizer that rewrites variants in canoncial forms and
  substitutes reference sequences (if reference and transcript
  sequences differ)
* Formatters that generate HGVS strings from internal representations
* Tools to map variants between genome, transcript, and protein sequences
* Reliable handling of regions genome-transcript discrepancies
* Pluggable data providers support alternative sources of transcript mapping
  data
* Extensive automated tests, including those for all variant types and
  "problematic" transcripts
* Easily installed using remote data sources.  Installation with local
  data sources is straightforward and completely obviates network
  access


Important Notes
@@@@@@@@@@@@@@@

* **You are encouraged to** `browse issues
  <https://github.com/biocommons/hgvs/issues>`_.  All known issues are
  listed there.  Please report any issues you find.
* **Use a pip package specification to stay within minor releases.**
  For example, ``hgvs>=1.5,<1.6``. `hgvs` uses `Semantic Versioning
  <http://semver.org/>`__.


Examples
@@@@@@@@

Installation
#############

By default, `hgvs` uses remote data sources, which makes installation
easy.  

::

  $ mkvirtualenv hgvs-test
  (hgvs-test)$ pip install --upgrade setuptools
  (hgvs-test)$ pip install hgvs
  (hgvs-test)$ python

See `Installation instructions
<http://hgvs.readthedocs.org/en/stable/installation.html>`__ for
details, including instructions for installing `Universal Transcript
Archive (UTA) <https://github.com/biocommons/uta/>`__ and `SeqRepo
<https://github.com/biocommons/biocommons.seqrepo/>`__ locally.


Configuration
#############

`hgvs` will use publicly available data sources unless directed
otherwise through environment variables, like so::

  # N.B. These are examples. The correct values will depend on your installation
  $ export UTA_DB_URL=postgresql://anonymous:anonymous@localhost:5432/uta/uta_20210129
  $ export HGVS_SEQREPO_DIR=/usr/local/share/seqrepo/latest

Alternatively, if you are unable to pass the postgresql password in the
UTA_DB_URL environment variable (i.e., generating an auth token), you can set
UTA_DB_URL to ``postgresql://<user>@<host>/<db>/<schema>`` and set PGPASSWORD. For example::

  $ export UTA_DB_URL=postgresql://anonymous@localhost:5432/uta/uta_20210129 PGPASSWORD=anonymous

See the installation instructions for details.


Parsing and Formating
#####################

`hgvs` parses HGVS variants (as strings) into an object model, and can format
object models back into HGVS strings.

.. code-block:: python

  >>> import hgvs.parser

  # start with these variants as strings
  >>> hgvs_g = 'NC_000007.13:g.36561662C>T'
  >>> hgvs_c = 'NM_001637.3:c.1582G>A'

  # parse the genomic variant into a Python structure
  >>> hp = hgvs.parser.Parser()
  >>> var_g = hp.parse_hgvs_variant(hgvs_g)
  >>> var_g
  SequenceVariant(ac=NC_000007.13, type=g, posedit=36561662C>T, gene=None)

  # SequenceVariants are composed of structured objects, e.g.,
  >>> var_g.posedit.pos.start
  SimplePosition(base=36561662, uncertain=False)

  # format by stringification 
  >>> str(var_g)
  'NC_000007.13:g.36561662C>T'


Projecting ("Mapping") variants between aligned genome and transcript sequences
###############################################################################

`hgvs` provides tools to project variants between genome, transcript,
and protein sequences.  Non-coding and intronic variants are
supported.  Alignment data come from the `Universal Transcript Archive
(UTA) <https://github.com/biocommons/uta/>`__.

.. code-block:: python

  >>> import hgvs.dataproviders.uta
  >>> import hgvs.assemblymapper

  # initialize the mapper for GRCh37 with splign-based alignments
  >>> hdp = hgvs.dataproviders.uta.connect()
  >>> am = hgvs.assemblymapper.AssemblyMapper(hdp,
  ...          assembly_name='GRCh37', alt_aln_method='splign',
  ...          replace_reference=True)
  
  # identify transcripts that overlap this genomic variant
  >>> transcripts = am.relevant_transcripts(var_g)
  >>> sorted(transcripts)
  ['NM_001177506.1', 'NM_001177507.1', 'NM_001637.3']

  # map genomic variant to one of these transcripts
  >>> var_c = am.g_to_c(var_g, 'NM_001637.3')
  >>> var_c
  SequenceVariant(ac=NM_001637.3, type=c, posedit=1582G>A, gene=None)
  >>> str(var_c)
  'NM_001637.3:c.1582G>A'

  # CDS coordinates use BaseOffsetPosition to support intronic offsets
  >>> var_c.posedit.pos.start
  BaseOffsetPosition(base=1582, offset=0, datum=Datum.CDS_START, uncertain=False)


Translating coding variants to protein sequences
################################################

Coding variants may be translated to their protein consequences.  HGVS
uses the same pairing of transcript and protein accessions as seen in
NCBI and Ensembl.

.. code-block:: python

   # translate var_c to its protein consequence
   # The object structure of protein variants is nearly identical to
   # that of nucleic acid variants and is converted to a string form
   # by stringification. Per HGVS recommendations, inferred consequences
   # must have parentheses to indicate uncertainty.
   >>> var_p = am.c_to_p(var_c)
   >>> var_p
   SequenceVariant(ac=NP_001628.1, type=p, posedit=(Gly528Arg), gene=None)
   >>> str(var_p)
   'NP_001628.1:p.(Gly528Arg)'

   # setting uncertain to False removes the parentheses on the
   # stringified form
   >>> var_p.posedit.uncertain = False
   >>> str(var_p)
   'NP_001628.1:p.Gly528Arg'

   # formatting can be customized, e.g., use 1 letter amino acids to
   # format a specific variant
   # (configuration may also be set globally)
   >>> var_p.format(conf={"p_3_letter": False})
   'NP_001628.1:p.G528R'



Normalizing variants
####################

Some variants have multiple representations due to instrinsic
biological ambiguity (e.g., inserting a G in a poly-G run) or due to
misunderstanding HGVS recommendations.  Normalization rewrites certain
veriants into a single representation.

.. code-block:: python

  # rewrite ins as dup (depends on sequence context)
  >>> import hgvs.normalizer
  >>> hn = hgvs.normalizer.Normalizer(hdp)
  >>> hn.normalize(hp.parse_hgvs_variant('NM_001166478.1:c.35_36insT'))
  SequenceVariant(ac=NM_001166478.1, type=c, posedit=35dup, gene=None)

  # during mapping, variants are normalized (by default)
  >>> c1 = hp.parse_hgvs_variant('NM_001166478.1:c.31del')
  >>> c1
  SequenceVariant(ac=NM_001166478.1, type=c, posedit=31del, gene=None)
  >>> c1n = hn.normalize(c1)
  >>> c1n
  SequenceVariant(ac=NM_001166478.1, type=c, posedit=35del, gene=None)
  >>> g = am.c_to_g(c1)
  >>> g
  SequenceVariant(ac=NC_000006.11, type=g, posedit=49917127del, gene=None)
  >>> c2 = am.g_to_c(g, c1.ac)
  >>> c2
  SequenceVariant(ac=NM_001166478.1, type=c, posedit=35del, gene=None)


There are `more examples in the documentation
<http://hgvs.readthedocs.org/en/stable/examples.html>`_.


Citing hgvs (the package)
@@@@@@@@@@@@@@@@@@@@@@@@@

| **hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.**
| Wang M, Callenberg KM, Dalgleish R, Fedtsov A, Fox N, Freeman PJ, Jacobs KB, Kaleta P, McMurry AJ, Prlić A, Rajaraman V, Hart RK
| Human Mutation. 2018 `Pubmed <https://www.ncbi.nlm.nih.gov/pubmed/30129167>`__ | `Open Access PDF <https://doi.org/10.1002/humu.23615>`__

| **A Python Package for Parsing, Validating, Mapping, and Formatting Sequence Variants Using HGVS Nomenclature.**
| Hart RK, Rico R, Hare E, Garcia J, Westbrook J, Fusaro VA.
| *Bioinformatics*. 2014 Sep 30. `PubMed <http://www.ncbi.nlm.nih.gov/pubmed/25273102>`__ | `Open Access PDF <http://bioinformatics.oxfordjournals.org/content/31/2/268.full.pdf>`__


Contributing
@@@@@@@@@@@@

The hgvs package is intended to be a community project.  Please see
`Contributing
<http://hgvs.readthedocs.org/en/stable/contributing.html>`__ to get
started in submitting source code, tests, or documentation.  Thanks
for getting involved!


See Also
@@@@@@@@

Other packages that manipulate HGVS variants:

* `pyhgvs <https://github.com/counsyl/hgvs>`__
* `Mutalyzer <https://mutalyzer.nl/>`__


.. _docs: http://hgvs.readthedocs.org/
.. _Variation Nomenclature: http://varnomen.hgvs.org/

.. |getting_help| image:: https://img.shields.io/badge/!-help%20me-red.svg
   :target: https://hgvs.readthedocs.io/en/stable/getting_help.html

.. |rtd| image:: https://img.shields.io/badge/docs-readthedocs-green.svg
   :target: http://hgvs.readthedocs.io/

.. |changelog| image:: https://img.shields.io/badge/docs-changelog-green.svg
   :target: https://hgvs.readthedocs.io/en/stable/changelog/

.. |github_license| image:: https://img.shields.io/github/license/biocommons/hgvs.svg
   :alt: GitHub license
   :target: https://github.com/biocommons/hgvs/blob/main/LICENSE)

.. |group| image:: https://img.shields.io/badge/group-hgvs%20discuss-green.svg
   :alt: Mailing list
   :target: https://groups.google.com/forum/#!forum/hgvs-discuss

.. |chat| image:: https://img.shields.io/badge/chat-gitter-green.svg
   :alt: Join the chat at https://gitter.im/biocommons/hgvs
   :target: https://gitter.im/biocommons/hgvs?utm_source=badge&utm_medium=badge&utm_campaign=pr-badge&utm_content=badge


.. |github_tag| image:: https://img.shields.io/github/tag/biocommons/hgvs.svg
   :alt: GitHub tag
   :target: https://github.com/biocommons/hgvs

.. |pypi_rel| image:: https://img.shields.io/pypi/v/hgvs.svg
   :target: https://pypi.org/project/hgvs/


.. |status_rel| image:: https://img.shields.io/travis/biocommons/hgvs/main.svg
   :target: https://travis-ci.org/biocommons/hgvs?branch=main

.. |coveralls| image:: https://img.shields.io/coveralls/github/biocommons/hgvs.svg
   :target: https://coveralls.io/github/biocommons/hgvs

.. |issues| image:: https://img.shields.io/github/issues-raw/biocommons/hgvs.svg
   :alt: issues
   :target: https://github.com/biocommons/hgvs/issues

.. |github_open_pr| image:: https://img.shields.io/github/issues-pr/biocommons/hgvs.svg
   :alt: GitHub Open Pull Requests
   :target: https://github.com/biocommons/hgvs/pull/

.. |github_stars| image:: https://img.shields.io/github/stars/biocommons/hgvs.svg?style=social&label=Stars
   :alt: GitHub stars
   :target: https://github.com/biocommons/hgvs/stargazers

.. |github_forks| image:: https://img.shields.io/github/forks/biocommons/hgvs.svg?style=social&label=Forks
   :alt: GitHub forks
   :target: https://github.com/biocommons/hgvs/network

.. |github_contrib| image:: https://img.shields.io/github/contributors/biocommons/hgvs.svg
   :alt: GitHub license
   :target: https://github.com/biocommons/hgvs/graphs/contributors/

.. |install_status| image:: https://travis-ci.org/reece/hgvs-integration-test.png?branch=main
   :target: https://travis-ci.org/reece/hgvs-integration-test

.. |binder| image:: https://mybinder.org/badge_logo.svg
   :target: https://mybinder.org/v2/gh/biocommons/hgvs/main?filepath=examples

.. |hit| image:: https://travis-ci.org/biocommons/hgvs-installation-test.svg?branch=main
    :alt: nightly test of ability to pip install, import, and parse a variant
    :target: https://travis-ci.org/biocommons/hgvs-installation-test	    
