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Description Extractor specifications
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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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
An efficient algorithm for the extraction of HGVS variant descriptions from sequences.
Description Extractor in publications
(2)[…] 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 […]
Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing
[…] (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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