RT Journal Article SR Electronic T1 GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data JF bioRxiv FD Cold Spring Harbor Laboratory SP 088401 DO 10.1101/088401 A1 Karol Pal A1 Vojtech Bystry A1 Tomas Reigl A1 Martin Demko A1 Adam Krejci A1 Tasoula Touloumenidou A1 Evangelia Stalika A1 Boris Tichy A1 Paolo Ghia A1 Kostas Stamatopoulos A1 Sarka Pospisilova A1 Jitka Malcikova A1 Nikos Darzentas A1 European Research Initiative on CLL (ERIC) – TP53 Network YR 2016 UL http://biorxiv.org/content/early/2016/11/17/088401.abstract 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.