Web Service MutalyzerService SOAP

aka Mutalyzer Syntax Checker aka Mutalyzer Position Converter aka Mutalyzer SNP Converter aka Mutalyzer Name Checker Add_annotation_inactiveAdd_annotation_inactiveLog in to add alternative_name
PASSED
Annotations: 153 Total number of annotations from the provider's definition / description document. 135 Total number of annotations submitted by members of BioCatalogue. 18 Total number of annotations sourced from other registries. 0

Overview

Provider:
mutalyzer-nl

Location:
not available

Submitter/Source:
Peter TaschnerNl (about 5 years ago)

Base URL:
https://mutalyzer.nl/services/

WSDL Location:
https://mutalyzer.nl/services/?wsdl (download last cached WSDL file)

Description(s):
by Peter Taschner (about 5 years ago)

*** Please note that the service is running, although Biocatalogue states the opposite due to their inability to run the test script from within the EBI ***

Mutalyzer is a tool to check if descriptions of sequence variants comply to the standard human sequence variant nomenclature of the Human Genome Sequence Variation Society (HGVS) (For an overview, visit http://www.hgvs.org/mutnomen/). Mutalyzer aims to encourage the proper use of nomenclature in publications and reduce redundancy in sequence variation databases (See https://mutalyzer.nl/help for detailed information). In principle, Mutalyzer can check descriptions of sequence variants detected in other organisms, provided that the standard HGVS nomenclature is applied.

The webservices provide programmatic access to functionality underlying the following browser interfaces: Mutalyzer Name Checker: takes the complete sequence variant description as input and checks whether it is correct (Webservice operation: runMutalyzer) Mutalyzer Syntax Checker: takes the complete sequence variant description as input and checks whether the syntax is correct (Webservice operation: checkSyntax). Mutalyzer Position Converter: can convert chromosomal positions to transcript orientated positions and vice versa (Webservice operation: numberConversion). Mutalyzer SNP Converter: can look up HGVS descriptions for a dbSNP rs identifier (Webservice operation: getdbSNPDescriptions).

Information from the MySQL database used by the Mutalyzer Position Converter can be retrieved separately (Webservice operations: chromAccession, chromosomeName, getGeneName, getTranscripts, getchromName, mappingInfo, transcriptInfo).

ELIXIR Description(s): Info
by Michael Cornell Curator(over 2 years ago)

Checks sequence variant nomenclature according to the guidelines of the Human Genome Variation Society.

License(s): Info
No info yet
Cost: Info
by Peter Taschner (about 5 years ago)

Free use

Usage conditions: Info
by Peter Taschner (about 5 years ago)

No limitations currently.

Contact info: Info
by Peter Taschner (about 5 years ago)

Please use our bug tracking system (https://humgenprojects.lumc.nl/trac/mutalyzer/) to submit bugs and feature requests..

by Michael Cornell Curator(over 2 years ago)
How to cite this service: Info
No info yet
Publications about this service: Info
by Peter Taschner (about 5 years ago)

When you use Mutalyzer, please cite this paper: Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. Improving sequence variant descriptions in mutation databases and literature using the MUTALYZER sequence variation nomenclature checker. Hum Mutat 29:6-13 (2008), []

Citations of this service: Info
No info yet

Info Members Responsible for this Service (1)

Info Favourited By (0)

No one

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