Description Extractor specifications

Desktop Web

Information

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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Versioning

No version available

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 citation

library_books

Impact of annotation error in α globin genes on molecular diagnosis

2017
PLoS One
PMCID: 5648127
PMID: 29049312
DOI: 10.1371/journal.pone.0185270

[…] o 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 that […]

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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