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. 2017. |
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Basic information | |
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Original name | GLASS |
Name in Czech | GLASS |
Authors | PÁL, Karol (703 Slovakia, belonging to the institution), Vojtěch BYSTRÝ (203 Czech Republic, belonging to the institution), Tomáš REIGL (203 Czech Republic, belonging to the institution), Martin DEMKO (703 Slovakia, belonging to the institution), Adam KREJČÍ (203 Czech Republic, belonging to the institution), T. TOULOUMENIDOU (300 Greece), E. STALIKA (300 Greece), Boris TICHÝ (203 Czech Republic), P. GHIA (380 Italy), K. STAMATOPOULOS (300 Greece), Šárka POSPÍŠILOVÁ (203 Czech Republic), Jitka MALČÍKOVÁ (203 Czech Republic) and Nikos DARZENTAS (300 Greece). |
Edition | 2017. |
Other information | |
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Original language | English |
Type of outcome | Software |
Field of Study | 10600 1.6 Biological sciences |
Country of publisher | Czech Republic |
Confidentiality degree | is not subject to a state or trade secret |
WWW | zdrojovy kod |
RIV identification code | RIV/00216224:14740/17:00094448 |
Organization unit | Central European Institute of Technology |
Keywords in English | Sanger sequencing data; GLASS |
Technical parameters | Výsledkem je Webová aplikace. Zdrojový kód přístúpný přes GitHub. Zdrojový kód napsán primárne v jayzce R a JavaScript. |
Tags | rivok |
Changed by | Changed by: Mgr. Karol Pál, Ph.D., učo 173390. Changed: 19/3/2018 12:07. |
Abstract |
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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. |
Links | |
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ED3.2.00/08.0144, research and development project | Name: CERIT Scientific Cloud |
LM2010005, research and development project | Name: Velká infrastruktura CESNET (Acronym: VI CESNET) |
Investor: Ministry of Education, Youth and Sports of the CR | |
LM2015091, research and development project | Name: Národní centrum lékařské genomiky (Acronym: NCLG) |
Investor: Ministry of Education, Youth and Sports of the CR | |
LQ1601, research and development project | Name: CEITEC 2020 (Acronym: CEITEC2020) |
Investor: Ministry of Education, Youth and Sports of the CR | |
MUNI/A/1106/2016, interní kód MU | Name: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit IV (Acronym: VýDiTeHeMA IV) |
Investor: Masaryk University, Category A | |
NV16-34272A, research and development project | Name: Encyklopedie CLL podskupin: unikátní znalostní databáze vybavená bioinformatickými nástroji použitelná v personalizované biomedicíně a klinické praxi |
TE02000058, research and development project | Name: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Acronym: MOLDIMED) |
Investor: Technology Agency of the Czech Republic | |
692298, interní kód MU | Name: MEDGENET - Medical genomics and epigenomics network (Acronym: MEDGENET) |
Investor: European Union, Spreading excellence and widening participation |
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