Project information
Národní centrum lékařské genomiky
(NCLG)
- Project Identification
- LM2015091
- Project Period
- 1/2016 - 12/2019
- Investor / Pogramme / Project type
-
Ministry of Education, Youth and Sports of the CR
- Large Infrastructures for Research, Development and Innovation
- MU Faculty or unit
- Central European Institute of Technology
- Cooperating Organization
-
Charles University
- Responsible person doc. Ing. Stanislav Kmoch, CSc.
University Hospital Pilsen
University Hospital Prague - Motol
University Hospital Brno-Bohunice
General Teaching Hospital Praha
National Centre of Medical Genomics (NCMG) is the only research infrastructure in the Roadmap for Large Research, Development and Innovation Infrastructures of the Czech Republic focused on medical genomics. Its existence and support must be therefore one of national priorities. Local (national) genomic infrastructure is the only way how we can unite genomic experts, clinicians, scientist, patients and industry to study, identify and understand causes of individual and population specific diseases. Interdisciplinary collaboration will increase competitiveness of Czech biomedical science and our recent results clearly document, that this approach leads to significant discoveries (e.g. identification of causal genes and elucidation of molecular basis of > 20 human genetic diseases, leukemia, aspergillosis, inherited neurodegenerative and neuromuscular diseases, skin diseases and metabolics diseases), may attract foreign investigators to use the expertize and may have economic impact (new diagnostic products introduced on the market thanks to collaboration of MU and company Generi BioTech). Infrastructure is also important for education and training of new generation of scientists, computing specialists, bioinformaticians, statisticians, instrument operators, clinical genomicists and clinicians. All participating groups are involved in pregraduate and postgraduate education as well as in organization of specialised training programs and courses and organisation of workshops and symposia, e.g. Next-gen Sequencing Technologies and Applications organized in 2013 in Brno.
Publications
Total number of publications: 36
2018
-
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Platelets, year: 2018, volume: 29, edition: 8, DOI
-
ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation
Leukemia, year: 2018, volume: 32, edition: 5, DOI
-
Multiple productive IGH rearrangements denote oligoclonality even in immunophenotypically monoclonal CLL
Leukemia, year: 2018, volume: 32, edition: 1, DOI
-
Next-generation sequencing library preparation for low input cell-free DNA
Year: 2018, type: Conference abstract
-
Open Day MUNI 2018
Year: 2018, type: Popularization text
-
Targeted next generation sequencing in anaplastic large cell lymphoma
Year: 2018, type: Conference abstract
2017
-
GLASS
Year: 2017
-
GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
Bioinformatics, year: 2017, volume: 33, edition: 23, DOI
-
Identification of factors required for m(6)A mRNA methylation in Arabidopsis reveals a role for the conserved E3 ubiquitin ligase HAKAI
New Phytologist, year: 2017, volume: 215, edition: 1, DOI
-
MicroRNA and mesial temporal lobe epilepsy with hippocampal sclerosis: Whole miRNome profiling of human hippocampus
Epilepsia, year: 2017, volume: 58, edition: 10, DOI