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

Bioinformatics. 2017 Dec 1;33(23):3802-3804. doi: 10.1093/bioinformatics/btx423.

Abstract

Motivation: Sanger sequencing is still being employed for sequence variant detection by many laboratories, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases, considerable expertise.

Results: We present GLASS, a web-based Sanger sequence trace viewer, editor, aligner and variant caller, built to assist with the assessment of variations in 'curated' or user-provided genes. Critically, it produces a standardized variant output as recommended by the Human Genome Variation Society.

Availability and implementation: GLASS is freely available at http://bat.infspire.org/genomepd/glass/ with source code at https://github.com/infspiredBAT/GLASS.

Contact: nikos.darzentas@gmail.com or malcikova.jitka@fnbrno.cz.

Supplementary information: Supplementary data are available at Bioinformatics online.

MeSH terms

  • Alternative Splicing
  • Genotyping Techniques / methods*
  • Humans
  • Polymorphism, Genetic
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, RNA / methods*
  • Software*
  • Tumor Suppressor Protein p53 / genetics

Substances

  • Tumor Suppressor Protein p53