Welcome to the Mutalyzer web site
The aim of this program suite is to support checks of sequence variant
nomenclature according to the
guidelines of the
Human Genome Variation Society.
Different interfaces are provided to collect the information necessary
for the checks:
-
The Name Checker takes the complete sequence
variant description as input and checks whether it is correct.
-
The Syntax Checker takes the complete
sequence variant description as input and checks whether the syntax
is correct.
-
The Position Converter can convert
chromosomal positions to transcript orientated positions and vice
versa.
-
The SNP converter allows you to convert a
dbSNP rsId to HGVS notation.
-
The Name Generator is a user friendly
interface that helps to make a valid HGVS variant description.
-
The Description Extractor allows
you to convert generate the HGVS variant description from a reference
sequence and an observed sequence.
-
The Reference File Loader allows you to load and
use your own reference sequence.
-
The Batch Checkers are interfaces that accept a
list of inputs. These interfaces can be used for large quantities of
checks.
-
The Webservices page provides instructions
for the webservices.
GenBank sequences are retrieved from the
NCBI
(
Copyright and Disclaimers).
This project is sponsored by
SUN Microsystems with server
hardware within the scope of the Academic Excellence Grant (AEG)
program (award EDUD-7832-080223-CNE).