J 2017

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

PÁL, Karol, Vojtěch BYSTRÝ, Tomáš REIGL, Martin DEMKO, Adam KREJČÍ et. al.

Basic information

Original name

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

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, belonging to the institution), P. GHIA (380 Italy), K. STAMATOPOULOS (300 Greece), Šárka POSPÍŠILOVÁ (203 Czech Republic, guarantor, belonging to the institution), Jitka MALČÍKOVÁ (203 Czech Republic, belonging to the institution) and Nikos DARZENTAS (300 Greece, belonging to the institution)

Edition

Bioinformatics, Oxford, Oxford University Press, 2017, 1367-4803

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10600 1.6 Biological sciences

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 5.481

RIV identification code

RIV/00216224:14740/17:00094417

Organization unit

Central European Institute of Technology

DOI

UT WoS

000417004100017

Keywords in English

Sanger sequencing data; GLASS

Tags

Tags

International impact, Reviewed
Změněno: 19/3/2018 12:24, Mgr. Karol Pál, Ph.D.

Abstract

V originále

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

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