PT  - JOURNAL ARTICLE
AU  - Karol Pal
AU  - Vojtech Bystry
AU  - Tomas Reigl
AU  - Martin Demko
AU  - Adam Krejci
AU  - Tasoula Touloumenidou
AU  - Evangelia Stalika
AU  - Boris Tichy
AU  - Paolo Ghia
AU  - Kostas Stamatopoulos
AU  - Sarka Pospisilova
AU  - Jitka Malcikova
AU  - Nikos Darzentas
AU  - European Research Initiative on CLL (ERIC) – TP53 Network
TI  - GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
AID  - 10.1101/088401
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 088401
4099  - http://biorxiv.org/content/early/2016/11/17/088401.short
4100  - http://biorxiv.org/content/early/2016/11/17/088401.full
AB  - Motivation Sanger 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.Results We 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.Availability The program is freely available online at http://bat.infspire.org/genomepd/glass/.Contact nikos.darzentas{at}gmail.com, malcikova.jitka{at}fnbrno.czSupplementary information Supplementary data are available at Bioinformatics online.