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Mutalyzer specifications


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


  • Primates
    • Homo sapiens


  • person_outline Mutalyzer

Publication for Mutation Analyzer

Mutalyzer citations


Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS based analysis of hereditary cancer syndromes

PLoS One
PMCID: 5896995
PMID: 29649263
DOI: 10.1371/journal.pone.0195761

[…] enerated 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 ( were added to the annotated alternative variants.For a compa […]


Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

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

[…] on (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 only if they were a maximum […]


Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X Linked Agammaglobulinemia Phenotype Residing in a Developing Country

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

[…] re 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). […]


ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

PLoS One
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 ( […]


Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels

PMCID: 5814262
PMID: 29487695
DOI: 10.18632/oncotarget.23471

[…] e site prediction programs such as NNSPLICE and ESEF finder. All mutations were named according to the recommendations from Human Genome Variation Society (HGVS). Variant descriptions were checked by Mutalyzer Name Checker ( DNA sequencing was supplemented by multiplex ligation dependent probe amplification (MLPA) to detect large deletions or rearrangements [, ]. […]


Impact of annotation error in α globin genes on molecular diagnosis

PLoS One
PMCID: 5648127
PMID: 29049312
DOI: 10.1371/journal.pone.0185270

[…] s input sequence and carefully analysed using Variobox v.1.4.6 [], MAFFT version 7 (Multiple alignment program for amino acid or nucleotide sequences) [] and Mutation Surveyor V4.0.8 []. Additionaly, Mutalyzer 2.0.22 was used to identify the gene conversion phenomenon [,]. Finally, all the results from the three tools were compared, the ambiguous results were manually checked. NG\_000006.1 was use […]


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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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