GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data

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This publication doesn't include Institute of Computer Science. It includes Central European Institute of Technology. Official publication website can be found on muni.cz.
Authors

PÁL Karol BYSTRÝ Vojtěch REIGL Tomáš DEMKO Martin KREJČÍ Adam TOULOUMENIDOU T. STALIKA E. TICHÝ Boris GHIA P. STAMATOPOULOS K. POSPÍŠILOVÁ Šárka MALČÍKOVÁ Jitka DARZENTAS Nikos

Year of publication 2017
Type Article in Periodical
Magazine / Source Bioinformatics
MU Faculty or unit

Central European Institute of Technology

Citation
Web https://academic.oup.com/bioinformatics/article-abstract/33/23/3802/3964378?redirectedFrom=fulltext
Doi http://dx.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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