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bioRxiv · 10.1101/088401

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

Pal, K.·Bystry, V.·Reigl, T.·Demko, M.·Krejci, A.·Touloumenidou, T.·Stalika, E.·Tichy, B.·Ghia, P.·Stamatopoulos, K.·Pospisilova, S.·Malcikova, J.·Darzentas, N.·also on behalf of ERIC - TP53 Network,
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Abstract

MotivationSanger sequencing remains the reference method for sequence variant detection, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases considerable expertise. Additionally, variant reporting and nomenclature is typically left to the user, which can lead to inconsistencies.\n\nResultsWe introduce GLASS, a tool built to assist with the assessment of gene variations in Sanger sequencing data. Critically, it provides a standardized variant output as recommended by the Human Genome Variation Society.\n\nAvailabilityThe program is freely available online at http://bat.infspire.org/genomepd/glass/.\n\nContactnikos.darzentas@gmail.com, malcikova.jitka@fnbrno.cz\n\nSupplementary informationSupplementary data are available at Bioinformatics online.

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Pal, K., Bystry, V., Reigl, T., Demko, M., Krejci, A., Touloumenidou, T., Stalika, E., Tichy, B., Ghia, P., Stamatopoulos, K., Pospisilova, S., Malcikova, J., Darzentas, N., also on behalf of ERIC - TP53 Network,. 2016-11-17. GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data. https://doi.org/10.1101/088401

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