Informace o publikaci
GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
| Autoři | |
|---|---|
| Rok publikování | 2017 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Bioinformatics |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | https://academic.oup.com/bioinformatics/article-abstract/33/23/3802/3964378?redirectedFrom=fulltext |
| Doi | http://dx.doi.org/10.1093/bioinformatics/btx423 |
| Obor | Biotechnologie a bionika |
| Klíčová slova | Sanger sequencing data; GLASS |
| Popis | Motivation: Sanger sequencing is still being employed for sequence variant detection by many laboratories, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases, considerable expertise. Results: We present GLASS, a web-based Sanger sequence trace viewer, editor, aligner and variant caller, built to assist with the assessment of variations in 'curated' or user-provided genes. Critically, it produces a standardized variant output as recommended by the Human Genome Variation Society. |
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