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Description Extractor specifications

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Unique identifier OMICS_09709
Name Description Extractor
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages C++, Python
Computer skills Advanced
Stability Stable
Maintained Yes

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Maintainer


  • person_outline Jothan K. Vis <>

Information


Unique identifier OMICS_09709
Name Description Extractor
Interface Web user interface
Restrictions to use None
Programming languages C++, Python
Computer skills Basic
Stability Stable
Maintained Yes

Maintainer


  • person_outline Jothan K. Vis <>

Publication for Description Extractor

Description Extractor in publications

 (2)
PMCID: 5648127
PMID: 29049312
DOI: 10.1371/journal.pone.0185270

[…] verify the variants and name them according to hgvs nomenclature rules []. hba2 gene sequence was considered as reference sequence and the hba12 gene sequence was used as sample sequence in variant description extractor tool at the mutalyzer []. the mutalyzer software could not to identify the gene conversion phenomenon (). the mutalyzer software corrects hgvs nomenclature even for variants […]

PMCID: 5488171
PMID: 28378423
DOI: 10.1002/humu.23223

[…] (chaisson & tesler, ), and reporting a single best‐scoring alignment. variants were extracted by comparison between the reconstructed alleles and the human reference sequence with the variant description extractor from the mutalyzer suite 2.0.21 (vis, vermaat, taschner, kok, & laros, )., loss of heterozygosity (loh) for each amplified fragment was assessed to identify patients […]


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Description Extractor institution(s)
Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, Netherlands; Leiden Institute of Advanced Computer Science, Leiden University, Leiden, Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands; Generade Center of Expertise Genomics, University of Applied Sciences Leiden, Leiden, Netherlands; Leiden Genome Technology Center, Leiden University Medical Center, Leiden, Netherlands

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