| PÁL, Karol, Vojtěch BYSTRÝ, Tomáš REIGL, Martin DEMKO, Adam KREJČÍ, T. TOULOUMENIDOU, E. STALIKA, Boris TICHÝ, P. GHIA, K. STAMATOPOULOS, Šárka POSPÍŠILOVÁ, Jitka MALČÍKOVÁ and Nikos DARZENTAS. GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data. Bioinformatics. Oxford: Oxford University Press, 2017, vol. 33, No 23, p. 3802-3804. ISSN 1367-4803. Available from: https://dx.doi.org/10.1093/bioinformatics/btx423. |
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@article{1403133,
author = {Pál, Karol and Bystrý, Vojtěch and Reigl, Tomáš and Demko, Martin and Krejčí, Adam and Touloumenidou, T. and Stalika, E. and Tichý, Boris and Ghia, P. and Stamatopoulos, K. and Pospíšilová, Šárka and Malčíková, Jitka and Darzentas, Nikos},
article_location = {Oxford},
article_number = {23},
doi = {http://dx.doi.org/10.1093/bioinformatics/btx423},
keywords = {Sanger sequencing data; GLASS},
language = {eng},
issn = {1367-4803},
journal = {Bioinformatics},
title = {GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data},
url = {https://academic.oup.com/bioinformatics/article-abstract/33/23/3802/3964378?redirectedFrom=fulltext},
volume = {33},
year = {2017}
}
TY - JOUR
ID - 1403133
AU - Pál, Karol - Bystrý, Vojtěch - Reigl, Tomáš - Demko, Martin - Krejčí, Adam - Touloumenidou, T. - Stalika, E. - Tichý, Boris - Ghia, P. - Stamatopoulos, K. - Pospíšilová, Šárka - Malčíková, Jitka - Darzentas, Nikos
PY - 2017
TI - GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
JF - Bioinformatics
VL - 33
IS - 23
SP - 3802-3804
EP - 3802-3804
PB - Oxford University Press
SN - 13674803
KW - Sanger sequencing data
KW - GLASS
UR - https://academic.oup.com/bioinformatics/article-abstract/33/23/3802/3964378?redirectedFrom=fulltext
L2 - https://academic.oup.com/bioinformatics/article-abstract/33/23/3802/3964378?redirectedFrom=fulltext
N2 - 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.
ER -
PÁL, Karol, Vojtěch BYSTRÝ, Tomáš REIGL, Martin DEMKO, Adam KREJČÍ, T. TOULOUMENIDOU, E. STALIKA, Boris TICHÝ, P. GHIA, K. STAMATOPOULOS, Šárka POSPÍŠILOVÁ, Jitka MALČÍKOVÁ and Nikos DARZENTAS. GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data. \textit{Bioinformatics}. Oxford: Oxford University Press, 2017, vol.~33, No~23, p.~3802-3804. ISSN~1367-4803. Available from: https://dx.doi.org/10.1093/bioinformatics/btx423.
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