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

Karol Pal, Vojtech Bystry, Tomas Reigl, Martin Demko, Adam Krejci, Tasoula Touloumenidou, Evangelia Stalika, Boris Tichy, Paolo Ghia, Kostas Stamatopoulos, Sarka Pospisilova, Jitka Malcikova (+1 others)
2016 bioRxiv   pre-print
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
more » ... dardized variant output as recommended by the Human Genome Variation Society. Availability: The program is freely available online at http://bat.infspire.org/genomepd/glass/.
doi:10.1101/088401 fatcat:emmntlnod5bpxkl3243gxp6cda