Overview

bio-hgvs-perl -- parse, format, and translate HGVS-formatted genomic variants
Reece Hart <reecehart@gmail.com>

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  WARNING: This code is under development.  The following features work for
  most variants tested, but critical bugs remain.  Do not rely on this code
  for production work.
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bio-hgvs-perl provides is a set of Perl modules (Bio::HGVS::) to parse,
format, and translate strings that represent genomic and protein variants.

The syntax used is that of guidelines provided by the Human Genome
Variation Society (http://www.hgvs.org/mutnomen/).

Features:
- Apache license. Use it however you like.

- Aims to represent most of the features of HGVS recommendations,
  including intronic and UTR variants, ranges,

- Translates between genomic, CDS, and protein variants, including reverse
  translation of protein variants to genomic alternatives. (Requires
  Ensembl API.)

- Parser implemented using Parse::RecDescent rather than cumbersome and
  error-prone custom parsers.

- Includes simple stand-alone REST-ish web service and a human-ish web
  CGI page for translations.