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1 558 (0,095s) •

Project

The role of pathogenic genetic variants identified by exome sequencing in the etiology of pediatric neurodevelopmental disorders (NU20-07-00145)

with severe neurodevelopmental disorders by exome sequencing in the scope of the molecular and validation of exome sequencing analyses as a purposeful first-line genetic diagnostic......

Genetics and heredity (medical genetics to be 3)

  • 2020 - 2023
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  • 9 383 tis. Kč
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  • 9 383 tis. Kč
    • •
  • MZ
Project

Hereditary recessive diseases in Czech Roma – improved diagnostics and search for new causes by the use of homozygosity mapping and exome sequencing. (NV15-31899A)

causing mutations. This approach also improves data filtering from exome sequencing already and are the candidates for exome sequencing. We hope to clarify hereditary......

EB - Genetika a molekulární biologie

  • 2015 - 2019
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  • 5 786 tis. Kč
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  • 5 705 tis. Kč
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  • MZ
Project

Analysis of genetic variants associated with intellectual disability and autism spectrum disorders using next generation sequencing (NV17-29423A)

From the genetics perspective intellectual disability and autism spectrum disorders are a large heterogeneous group of rare diseases. Exomes will be sequenced in about 100 families with sporadic or familial occurrence of affected ch...

EB - Genetika a molekulární biologie

  • 2017 - 2020
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  • 11 653 tis. Kč
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  • 11 653 tis. Kč
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  • MZ
Project

New generation sequencing and genotyping approaches of DNA analysis for effective and comprehensive molecular diagnostics of less common and novel types of hereditary neuropaties Charcot-Marie-Tooth. (NT14348)

sequencing which has made possible to sequence the whole exome (all coding exons of all. Major developments in the availability of new genotyping and sequencing techniques......

FH - Neurologie, neurochirurgie, neurovědy

  • 2013 - 2015
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  • 4 694 tis. Kč
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  • 4 694 tis. Kč
    • •
  • MZ
Project

Characterization of genetic predisposition to ovarian cancer using genomic approaches in patients diagnosed with ovarian cancer before the age of 30 (NU20-03-00016)

exome/genome sequencing together with gene panel RNA sequencing in the well...

Genetics and heredity (medical genetics to be 3)

  • 2020 - 2023
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  • 10 063 tis. Kč
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  • 10 063 tis. Kč
    • •
  • MZ
Project

Whole exome, low-coverage genome and transcriptome sequencing as tools for precision oncology in paediatric patients with high-risk and relapsed solid tumors (NU20-03-00240)

. The overall aim of this project is an utilization of whole exome sequencing, genome sequencing with low coverage and transcriptome sequencing as important tools can be identified by modern methods based on next-g...

Oncology

  • 2020 - 2023
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  • 17 455 tis. Kč
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  • 17 455 tis. Kč
    • •
  • MZ
Project

Molecular basis and mechanisms of familial intrahepatic cholestasis (NV18-06-00032)

was sequenced in 41 patients with high GGT cholestasis. The diagnosis of PFIC1, PFIC2, BRIC patients expected to come in 2018-2021. To achieve this, we plan to perform whole exome sequencing and, when appropriate, genome <...

General and internal medicine

  • 2018 - 2022
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  • 8 630 tis. Kč
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  • 8 526 tis. Kč
    • •
  • MZ
Project

Epilepsy genetics To solve unsolvable cases with combined OMICs tools (NU20-04-00279)

implemented a massively parallel sequencing (MPS) gene panel for patients with epilepsy be further testing, namely by whole-exome (WES), whole-genome (WGS) and long read sequencing (LRS). We plan to examine about 200 of al...

Technologies involving identifying the functioning of DNA, proteins and enzymes and how they influence the onset of disease and maintenance of well-being (gene-based diagnostics and therapeutic interventions [pharmacogenomics, gene-based therapeutics])

  • 2020 - 2023
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  • 8 984 tis. Kč
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  • 8 984 tis. Kč
    • •
  • MZ
Project

Feasibility study of next generation sequencing for individualized therapy of patients with solid tumors (NV19-08-00113)

feasibility of the next generation sequencing method for discovery of Czech population by whole exome profiling method in cancer patients of Czech origin for the first time and its cost efficacy and benefit will be evaluated in com...

Medical laboratory technology (including laboratory samples analysis; diagnostic technologies) (Biomaterials to be 2.9 [physical characteristics of living material as related to medical implants, devices, sensors])

  • 2019 - 2023
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  • 8 710 tis. Kč
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  • 8 670 tis. Kč
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  • MZ
Project

New approaches to non-invasive diagnostics of mitochondrial diseases (NV19-07-00149)

, causal genetic variant will be identified by exome sequencing and newly characterisedMitochondrial diseases are caused by insufficient function of energy provision apparatus and they belong among the most severe inborn errors of m...

Paediatrics

  • 2019 - 2022
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  • 14 521 tis. Kč
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  • 14 521 tis. Kč
    • •
  • MZ
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