GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
Jazyk angličtina Země Anglie, Velká Británie Médium print
Typ dokumentu časopisecké články
PubMed
29036643
DOI
10.1093/bioinformatics/btx423
PII: 3964378
Knihovny.cz E-zdroje
- MeSH
- alternativní sestřih MeSH
- genotypizační techniky metody MeSH
- lidé MeSH
- nádorový supresorový protein p53 genetika MeSH
- polymorfismus genetický MeSH
- sekvenční analýza DNA metody MeSH
- sekvenční analýza RNA metody MeSH
- software * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- nádorový supresorový protein p53 MeSH
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.
CEITEC Central European Institute of Technology Masaryk University Brno Czech Republic
Department of Internal Medicine Hematology and Oncology University Hospital Brno Brno Czech Republic
Hematology Department and HCT Unit G Papanicolaou Hospital
Institute of Applied Biosciences Center for Research and Technology Hellas Thessaloniki Greece
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