Mutalyzer

By | September 22, 2011

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 http://www.mutalyzer.nl/2.0/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).

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

Name
Mutalyzer
Documentation
http://www.mutalyzer.nl/2.0/documentation
Protocol
SOAP
WSDL
Endpoint
http://www.mutalyzer.nl/2.0/services/?wsdl
Topic
Functional Genomics, Sequence Analysis
Type
Analysis
Tags
, , ,
Description

Mutalyzer is a tool to check if descriptions of sequence variants comply to the standard human sequence variant nomenclature of [...]

Further information

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 http://www.mutalyzer.nl/2.0/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).

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

Original source
BioCatalogue

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