GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
| Authors | |
|---|---|
| Year of publication | 2017 |
| Type | Article in Periodical |
| Magazine / Source | Bioinformatics |
| MU Faculty or unit | |
| Citation | |
| web | https://academic.oup.com/bioinformatics/article-abstract/33/23/3802/3964378?redirectedFrom=fulltext |
| Doi | https://doi.org/10.1093/bioinformatics/btx423 |
| Field | Biotechnology |
| Keywords | Sanger sequencing data; GLASS |
| Description | 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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