Informace o projektu
Národní centrum lékařské genomiky
(NCLG)
- Kód projektu
- LM2015091
- Období řešení
- 1/2016 - 12/2019
- Investor / Programový rámec / typ projektu
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Ministerstvo školství, mládeže a tělovýchovy ČR
- Velké infrastruktury pro výzkum, vývoj a inovace
- Fakulta / Pracoviště MU
- Středoevropský technologický institut
- Spolupracující organizace
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Univerzita Karlova
- Odpovědná osoba doc. Ing. Stanislav Kmoch, CSc.
Fakultní nemocnice Plzeň
Fakultní nemocnice v Motole
Fakultní nemocnice Brno
Všeobecná fakultní nemocnice v Praze - Praha 2
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.
Publikace
Počet publikací: 36
2018
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A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Platelets, rok: 2018, ročník: 29, vydání: 8, DOI
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ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation
Leukemia, rok: 2018, ročník: 32, vydání: 5, DOI
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Multiple productive IGH rearrangements denote oligoclonality even in immunophenotypically monoclonal CLL
Leukemia, rok: 2018, ročník: 32, vydání: 1, DOI
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Next-generation sequencing library preparation for low input cell-free DNA
Rok: 2018, druh: Konferenční abstrakty
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Open Day MUNI 2018
Rok: 2018, druh: Popularizační texty
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Targeted next generation sequencing in anaplastic large cell lymphoma
Rok: 2018, druh: Konferenční abstrakty
2017
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GLASS
Rok: 2017
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GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data
Bioinformatics, rok: 2017, ročník: 33, vydání: 23, DOI
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Identification of factors required for m(6)A mRNA methylation in Arabidopsis reveals a role for the conserved E3 ubiquitin ligase HAKAI
New Phytologist, rok: 2017, ročník: 215, vydání: 1, DOI
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MicroRNA and mesial temporal lobe epilepsy with hippocampal sclerosis: Whole miRNome profiling of human hippocampus
Epilepsia, rok: 2017, ročník: 58, vydání: 10, DOI