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 v Praze
- Odpovědná osoba doc. Ing. Stanislav Kmoch, CSc.
Fakultní nemocnice Plzeň
Fakultní nemocnice v Motole
Fakultní nemocnice Brno
Všeobecná fakultní nemocnice v Praze
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: 39
2020
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Analysis mutational landscape in systemic anaplastic large cell lymphoma identifies novel prognostic markers
Rok: 2020, druh: Konferenční abstrakty
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Cost-effective straightforward method for captured whole mitogenome sequencing of ancient DNA
Forensic Science International, rok: 2020, DOI
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Description of Massilia rubra sp. nov., Massilia aquatica sp. nov., Massilia mucilaginosa sp. nov., Massilia frigida sp. nov., and one Massilia genomospecies isolated from Antarctic streams, lakes and regoliths
Systematic and Applied Microbiology, rok: 2020, ročník: 43, vydání: 5, DOI
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Genome sequences of two Antarctic strains of Pseudomonas prosekii: insights into adaptation to extreme conditions
Archives of Microbiology, rok: 2020, ročník: 202, vydání: 3, DOI
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Human-like telomeres in Zostera marina reveal a mode of transition from the plant to the human telomeric sequences
Journal of Experimental Botany, rok: 2020, ročník: 71, vydání: 19, DOI
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Characterization of Staphylococcus intermedius Group Isolates Associated with Animals from Antarctica and Emended Description of Staphylococcus delphini
Microorganisms, rok: 2020, ročník: 8, vydání: 2, DOI
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Loss of histone macroH2A1 in hepatocellular carcinoma cells promotes paracrine-mediated chemoresistance and CD4(+)CD25(+)FoxP3(+) regulatory T cells activation
THERANOSTICS, rok: 2020, ročník: 10, vydání: 2, DOI
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Mutational landscape analysis in systematic anaplastic large cell lymphoma identifies novel prognostic markers.
Rok: 2020, druh: Konferenční abstrakty
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Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
Frontiers in Genetics, rok: 2020, ročník: 11, vydání: October 2020, DOI
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Spatial structure of permafrost and active layer from the James Ross Island, Antarctica: Geological and Microbiological Insights
Rok: 2020, druh: Konferenční abstrakty