TY - JOUR T1 - GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data JF - bioRxiv DO - 10.1101/088401 SP - 088401 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 Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/11/17/088401.abstract N2 - 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. ER -