Informace o publikaci

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

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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

Rok publikování 2017
Druh Článek v odborném periodiku
Časopis / Zdroj Bioinformatics
Fakulta / Pracoviště MU

Středoevropský technologický institut

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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