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

K. Pal, V. Bystry, T. Reigl, M. Demko, A. Krejci, T. Touloumenidou, E. Stalika, B. Tichy, P. Ghia, K. Stamatopoulos, S. Pospisilova, J. Malcikova, N. Darzentas,

. 2017 ; 33 (23) : 3802-3804.

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18033655

Grantová podpora
NV16-34272A MZ0 CEP - Centrální evidence projektů

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.

Citace poskytuje Crossref.org

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