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Program to take a HGVS variant and create a laymans sentence explaining what is occurring

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conmeehan/laymansHGVS

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laymansHGVS

Program to take a HGVS-nomenclature variant and create a laymans sentence explaining what is occurring

The grammar importing function relies heavily on the grammar.py module code created by Mutalyzer

Installation

This package requires pyparsing and can be installed using pip:

git clone https://github.com/conmeehan/laymansHGVS
pip install laymansHGVS

Usage

This installs a simple command line script called explain_HGVS that takes a single argument string containing a valid HGVS formatted variant and explains it.

explain_HGVS --variant "Genome1(Gene1):c.25A>G"
>>> This is a subst found in Genome1 at position 25 where the reference has a A and the sample has a G

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Program to take a HGVS variant and create a laymans sentence explaining what is occurring

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