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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 in pipelines

 (2)
2016
PMCID: 5030299
PMID: 27708576
DOI: 10.3389/fnagi.2016.00220

[…] database (hgmd) (http://www.hgmd.org/). the effects of these variants were evaluated with several types of predictive software, including (1) mutationtaster (http://www.mutationtaster.org/); (2) mutalyzer (https://mutalyzer.nl/); (3) spliceport (http://spliceport.cbcb.umd.edu), (4) alternative splice site predictor (assp) (http://wangcomputing.com/assp/index.html), and (5) human splicing […]

2012
PMCID: 3671095
PMID: 23143600
DOI: 10.1038/ng.2454

[…] seattleseq 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 […]


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Mutalyzer in publications

 (65)
PMCID: 5896995
PMID: 29649263
DOI: 10.1371/journal.pone.0195761

[…] using gatk [, ] and to check the presence of each variant in external databases (exac, 1000genome or clinvar) [–]. predictive values from selected prediction algorithms (for example sift [], mutation analyzer [], mutationtaster [], lrt [], polyphen-2 [], phylop [], gerp [], cadd [] or spidex (https://www.deepgenomics.com/spidex) were added to the annotated alternative variants., […]

PMCID: 5892948
PMID: 29634759
DOI: 10.1371/journal.pone.0193790

[…] (cpm)., identification of translation initiation sites (tis) in ht treated samples was performed by a previously published bioinformatics peak calling analysis []. orf coordinates were assigned with mutalyzer []. in this analysis, peaks were defined as having >40% of all coverage in the first position and a minimum total coverage of 20. candidate peaks were considered […]

PMCID: 5820318
PMID: 29503650
DOI: 10.3389/fimmu.2018.00289

[…] to detect mutations in the coding sequence and exon/intron junctions of btk. the nomenclature for mutations in btk is according to guidelines by the human genome variation society as determined by mutalyzer 2.0.26-name checker (nm_000061.2)., table presents clinical findings and laboratorial data of the 20 patients and lists btk mutations identified in 17 participants. the mean age […]

PMCID: 5940638
PMID: 29467486
DOI: 10.1038/s41375-017-0007-7

[…] be described using the nomenclature devised by the hgvs nomenclature (http://varnomen.hgvs.org/) []. several software programs are available to ensure adherence to standardized nomenclature (e.g., mutalyzer; https://www.mutalyzer.nl/). variants should be described at both cdna and protein level, and the reference sequence number and version including the transcript and protein variant […]

PMCID: 5784932
PMID: 29370219
DOI: 10.1371/journal.pone.0191602

[…] all pathogenic mutations were tested twice in two independent experiments. the nomenclature of the variants was based on the armc5 ncbi reference sequence nm_001105247.1 and was verified using the mutalyzer program (http://www.lovd.nl/mutalyzer/)., pbmah family-1 had 14 members including 9 who participated in the clinical data collection and gene sequencing (; ). the proband (ii-5 in family-1 […]


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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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