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 - 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: 45
2021
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Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study
haematologica, rok: 2021, ročník: 106, vydání: 3, DOI
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Cost-effective straightforward method for captured whole mitogenome sequencing of ancient DNA
Forensic Science International, rok: 2021, ročník: 319, vydání: February 2021, DOI
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Dynamic miRNA changes during the process of epileptogenesis in an infantile and adult-onset model
Nature Scientific Reports, rok: 2021, ročník: 11, vydání: 1, DOI
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Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multicenter study
Haematologica, rok: 2021, ročník: 106, vydání: 1, DOI
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NFAT signaling in human mesenchymal stromal cells affects extracellular matrix remodeling and antifungal immune responses
iSCIENCE, rok: 2021, ročník: 24, vydání: 6, DOI
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Whole exome sequencing reveals NOTCH1 mutations in anaplastic large cell lymphoma and points to Notch both as a key pathway and a potential therapeutic target
haematologica, rok: 2021, ročník: 106, vydání: 6, DOI
2020
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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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Epilepsy miRNA Profile Depends on the Age of Onset in Humans and Rats
Frontiers in Neuroscience, rok: 2020, ročník: 14, vydání: SEP, 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