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.File in questo prodotto:
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