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

Articolo
Data di Pubblicazione:
2017
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.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
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
Elenco autori:
Pal, Karol; Bystry, Vojtech; Reigl, Tomas; Demko, Martin; Krejci, Adam; Touloumenidou, Tasoula; Stalika, Evangelia; Tichy, Boris; Ghia, Paolo; Stamatopoulos, Kostas; Pospisilova, Sarka; Malcikova, Jitka; Darzentas, Nikos
Autori di Ateneo:
GHIA PAOLO PROSPERO
Link alla scheda completa:
https://iris.unisr.it/handle/20.500.11768/87254
Pubblicato in:
BIOINFORMATICS
Journal
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URL

http://bioinformatics.oxfordjournals.org/
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