" gene identification" . "C\u00EDlem projektu je ur\u010Den\u00ED a charakterizace gen\u016F, genov\u00FDch mutac\u00ED a genomov\u00FDch zm\u011Bn v p\u0159\u00EDpadech vz\u00E1cn\u00FDch geneticky podm\u00EDn\u011Bn\u00FDch onemocn\u011Bn\u00ED doposud nezn\u00E1m\u00E9 etiologie a n\u00E1sledn\u00E1 charakterizace a korelace dopad\u016F nalezen\u00FDch genomov\u00FDch zm\u011Bn na tk\u00E1\u0148ov\u00E9 a bun\u011B\u010Dn\u00E9 \u00FArovni pomoc\u00ED kombinace genomick\u00FDch, bioinformatick\u00FDch, molekul\u00E1rn\u011B biologick\u00FDch a mikroskopick\u00FDch metod v\u010Detn\u011B metod genomov\u00E9ho sekvenov\u00E1n\u00ED. Projekt povede k p\u0159esn\u00E9 diagn\u00F3ze a definici onemocn\u011Bn\u00ED, c\u00EDlen\u00E9 DNA diagnostice, kvalifikovan\u00E9mu genetick\u00E9mu poradenstv\u00ED, prenat\u00E1ln\u00ED diagnostice a prevenci. Objasn\u011Bn\u00ED molekul\u00E1rn\u00ED podstaty studovan\u00FDch fenotyp\u016F bude z\u00E1rove\u0148 z\u00E1kladn\u00EDm p\u0159edpokladem kvalifikovan\u00E9 aplikace \u010Di v\u00FDvoje nov\u00FDch terapeutick\u00FDch postup\u016F sni\u017Euj\u00EDc\u00EDch jejich morbiditu a mortalitu. Projekt t\u00E9\u017E zv\u00FD\u0161\u00ED informovanost spolupracuj\u00EDc\u00EDch klinick\u00FDch pracovi\u0161\u0165 v oblasti z\u00EDsk\u00E1v\u00E1n\u00ED, interpretace a poskytov\u00E1n\u00ED genomov\u00FDch dat, co\u017E umo\u017En\u00ED zhodnocen\u00ED p\u0159\u00EDnosu nov\u00FDch genomick\u00FDch technik do klinicko-diagnostick\u00E9 praxe." . "NT13116" . "5"^^ . "5"^^ . . "rare genetic disorders" . "Vyu\u017Eit\u00ED nov\u00FDch metod anal\u00FDzy genomu ve studiu molekul\u00E1rn\u00ED podstaty vz\u00E1cn\u00FDch geneticky podm\u00EDn\u011Bn\u00FDch onemocn\u011Bn\u00ED." . " copy number analysis" . "1"^^ . . "0"^^ . . "rare genetic disorders; gene identification; molecular basis; genotyping; positional cloning; genome sequencing; copy number analysis; genotype - phenotype correlati"@en . . "0"^^ . . "2015-12-31+01:00"^^ . . "2012-04-01+02:00"^^ . . . "2014-03-21+01:00"^^ . . . "2015-01-22+01:00"^^ . . . " positional cloning" . . "http://www.isvav.cz/projectDetail.do?rowId=NT13116"^^ . "Identification of the genetic and molecular basis of rare genetic disorders using novel genomic methods."@en . . . " molecular basis" . " genome sequencing" . "The project is aimed at identification and characterization of the genetic and molecular basis of rare genetic disorders of unknown etiology. In the project already available DNA samples, body fluids, tissue biopsies and cell cultures will be analyzed using combination of genomic, bioinformatic, molecular biology, microscopy and genomic sequencing techniques. It is expected that identification and characterization of disease causing genes enable correct diagnosis and classification of studied phenotypes, targeted DNA diagnosis, genetic counseling, prenatal diagnosis and prevention reveal pathogenetic mechanism fundamental for application and development of targeted therapeutic approaches which may decrease or prevent morbidity and mortality among affected patients. The project will also translate into increased knowledge among clinical partners in terms of generation and interpretation of genomic data and help to evaluate benefits of new genomic techniques for routine clinical practice."@en . . " genotyping" . .