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.

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

Ghia, Paolo;
2017-01-01

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.
2017
Alternative Splicing; Genotyping Techniques; Humans; Polymorphism, Genetic; Sequence Analysis, DNA; Sequence Analysis, RNA; Tumor Suppressor Protein p53; Software; Statistics and Probability; Biochemistry; Molecular Biology; Computer Science Applications1707 Computer Vision and Pattern Recognition; Computational Theory and Mathematics; Computational Mathematics
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/87254
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