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Reports sequence variants from Sanger sequence trace data in a standardized way as recommended by the Human Genome Variation Society (HGVS). GLASS is an intuitive way for novice and experienced users to discover and assess gene variations. GLASS is a bioinformatic implementation of best practices of labs with published know-how in the analysis of many clinically relevant genes.

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GLASS classification

GLASS specifications

Software type:
Package
Restrictions to use:
None
Input format:
ABI
Computer skills:
Basic
Stability:
Stable
Interface:
Web user interface
Input data:
A minimap with alignment of exons and introns of the reference gene, a chromatogram plot, a variants table
Programming languages:
R
Version:
0.2.9
Requirements:
Shiny

GLASS support

Maintainer

Credits

Publications

Institution(s)

Central European Institute of Technology, Masaryk University, Brno, Czech Republic; Hematology Department and HCT Unit, G. Papanicolaou Hospital, Thessaloniki, Greece; Institute of Applied Biosciences, Center for Research and Technology Hellas, Thessaloniki, Greece; Division of Molecular Oncology and Department of Onco-Hematology, IRCCS San Raffaele Scientific Institute and Università VitaSalute San Raffaele, Milan, Italy; University Hospital Brno, Brno, Czech Republic

Funding source(s)

This work was supported by the Faculty of Medicine, Masaryk University (projects CEITEC 2020 (LQ1601) and TEO2000058/2014-2019); the European Union’s Horizon 2020 n°692298; the Ministry of Health of the Czech Republic (grant n°16-34272A); the project MEYS - NPS I - LO1413.

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