Mutalyzer pipeline

Mutalyzer specifications

Information


Unique identifier OMICS_09700
Name Mutalyzer
Alternative name Mutation Analyzer
Interface Web user interface, Application programming interface
Restrictions to use None
License GNU Affero General Public License version 3
Computer skills Basic
Version 2.0.11
Stability Stable
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Mutalyzer <>

Publication for Mutation Analyzer

Mutalyzer citations

 (3)
2014
PMCID: 4024419

[…] showing sequence identity between wild and mutated sequences (figure 3)., the genomic reference of the polh gene ng_011763.1 was used to annotate the deletion according to the hgvs version 2.0 (mutalyzer 2.0.beta-26)., in this study, we investigated sixteen patients with late onset of xp features. these patients belong to ten consanguineous families from different tunisian geographic areas […]

2013
PMCID: 3552701

[…] description was also observed in some articles. under such circumstance, we used ucsc blat tool [12] to check and correct the discordance. during the whole data annotation process, we utilized mutalyzer 2.0 β-8 [13] to check all collected data and complete information of each mutation when some information is not available from articles. mutalyzer is a tool primarily designed to check […]

2012
PMCID: 3671095

[…] annotation: http://snp.gs.washington.edu/seattleseqannotation131/;, 1000 genomes: http://www.1000genomes.org/;, alamut: http://www.interactive-biosoftware.com/;, mutalyzer 2.0.beta-21: https://mutalyzer.nl/;, ncbi: http://www.ncbi.nlm.nih.gov/, genecards: http://www.genecards.org/, ensemble: http://www.ensembl.org/homo_sapiens/gene/, fshd genotyping and methylation analysis protocols: […]

Mutalyzer institution(s)
Department of Human Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands; Laboratory of Bioinformatics, Wageningen University, Wageningen, Netherlands

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