Tag: hgvs

hgvs 1.5.1 – Tools to Parse, Format, and Map Biological Sequence Variants

hgvs 1.5.1

:: DESCRIPTION

hgvs is a Python package to parse, format, and manipulate biological sequence variants according to recommendations of the Human Genome Variation Society.

::DEVELOPER

hgvs team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows/ MacOsX
  • Python

:: DOWNLOAD

 hgvs

 :: MORE INFORMATION

Citation

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. pii: btu630

Mutalyzer 2.0.34 – HGVS Variant Nomenclature Checker

Mutalyzer 2.0.34

:: DESCRIPTION

Mutalyzer is a tool primarily designed to check descriptions of sequence variants according to the standard human sequence variant nomenclature of the Human Genome Sequence Variation Society (HGVS).

::DEVELOPER

Mutalyzer team

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux
  • Python

:: DOWNLOAD

 Mutalyzer

:: MORE INFORMATION

Citation

An Efficient Algorithm for the Extraction of HGVS Variant Descriptions from Sequences.
Vis JK, Vermaat M, Taschner PE, Kok JN, Laros JF.
Bioinformatics. 2015 Jul 31. pii: btv443.