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2 999 (0,078s) •

Project

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

be further testing, namely by whole-exome (WES), whole-genome (WGS) and long read sequencing (LRS). We plan to examine about 200 of already selected patients implemented a massively parallel sequencing (M...

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

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
    • •
  • 5 786 tis. Kč
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  • 5 705 tis. Kč
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  • 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 ...

Oncology

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

Explaining metastatic potential of colorectal cancer through whole-exome sequening and immune cell and telomere landscape (GA23-05609S)

The project uses an internationally unique set of colorectal cancer (CRC) samples (N=100) with liver metasta-ses from the same patients to carry out whole exome sequencing (WES). We search for critical mutations and mutatio...

Oncology

  • 2023 - 2025
    • •
  • 12 109 tis. Kč
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  • 12 109 tis. Kč
    • •
  • GA ČR
Project

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

patients expected to come in 2018-2021. To achieve this, we plan to perform whole exome sequencing and, when appropriate, genome sequencing, copy number analysis or RNAseq was sequenced in 41 patients wit...

General and internal medicine

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

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

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 comparison with the whole exome feasibility of the next generation s...

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
    • •
  • 8 710 tis. Kč
    • •
  • 8 670 tis. Kč
    • •
  • MZ
Project

Whole genome sequencing and RNA sequencing - a tool for elucidation of the causes of rare types of hereditary neuropathies. (NV16-30206A)

massively parallel sequencing of a gene panel and whole exome sequencing (WES). The aim will use new possibilities and methods such as whole genome sequencing and RNA sequencing. Firstly...

FH - Neurologie, neurochirurgie, neurovědy

  • 2016 - 2019
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  • 5 850 tis. Kč
    • •
  • 5 850 tis. Kč
    • •
  • MZ
Project

Comprehensive cytogenetic and mutational analysis of canine mast cell tumours (GA16-26655S)

analysis of whole canine MCT exome will be performed using next-generation sequencing and molecular genetic approach. Canine whole chromosome painting probes will be prepared......

GJ - Choroby a škůdci zvířat, veterinární medicina

  • 2016 - 2020
    • •
  • 7 930 tis. Kč
    • •
  • 7 645 tis. Kč
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  • GA ČR
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
    • •
  • 4 694 tis. Kč
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  • 4 694 tis. Kč
    • •
  • MZ
Project

Identification and analysis of genes and genetic defects causing rare neurodevelopmental disorders in children (NU22-07-00165)

mechanisms. About 70 families will be analysed using exome sequencing, and whole genome sequencing will be done in 50 families with no remarkable exome finding. Improvements group of rare diseases caused ...

Human genetics

  • 2022 - 2025
    • •
  • 13 502 tis. Kč
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  • 13 502 tis. Kč
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  • MZ
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