PÁL, Karol, Vojtěch BYSTRÝ, Tomáš REIGL, Martin DEMKO, Adam KREJČÍ, T. TOULOUMENIDOU, E. STALIKA, Boris TICHÝ, P. GHIA, K. STAMATOPOULOS, Šárka POSPÍŠILOVÁ, Jitka MALČÍKOVÁ a Nikos DARZENTAS. GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data. Bioinformatics. Oxford: Oxford University Press, 2017, roč. 33, č. 23, s. 3802-3804. ISSN 1367-4803. Dostupné z: 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 a Nikos DARZENTAS. GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data. \textit{Bioinformatics}. Oxford: Oxford University Press, 2017, roč.~33, č.~23, s.~3802-3804. ISSN~1367-4803. Dostupné z: https://dx.doi.org/10.1093/bioinformatics/btx423.
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