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  • Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel. The recently introduced high-throughput whole genome sequencing (WGS) technology now offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop taylormade medical resequencing approaches for molecular genetic diagnosis of heterogeneous disorders. This project aims to deliver crucial innovations leading to these approaches, and to deliver a proof-of-principle for its implementation in selected model disorders. The model disorders have been selected with increasing genetic complexity, and represent the majority of non-multi (en)
  • Since the sequencing of the human genome has been completed the demand for genetic analysis in the human health care system is drastically increasing, and the extension of molecular genetic diagnostics is urgently needed. However, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently the available techniques lacked the required capacity to analyze several genes in parallel. The recently introduced high-throughput whole genome sequencing (WGS) technology now offers the unique opportunity to extend molecular genetic analysis by introducing these techniques, and develop taylormade medical resequencing approaches for molecular genetic diagnosis of heterogeneous disorders. This project aims to deliver crucial innovations leading to these approaches, and to deliver a proof-of-principle for its implementation in selected model disorders. The model disorders have been selected with increasing genetic complexity, and represent the majority of non-multi
Title
  • Technological innovation of high troughput molecular diagnostic of clinically and molecularly heterogeneous genetic disorder (en)
  • Technological innovation of high troughput molecular diagnostic of clinically and molecularly heterogeneous genetic disorder
skos:notation
  • 7E09052
http://linked.open...avai/cep/aktivita
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http://linked.open...ep/celkoveNaklady
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http://linked.open...i/cep/druhSouteze
http://linked.open...ep/duvernostUdaju
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  • molecular diagnosis high throughput whole genome sequencing medical resequencing genetic heterogeneity quality management validation cost effectiveness analysis ethical issues data analysis (en)
http://linked.open...ep/partnetrHlavni
http://linked.open...inujicichPrijemcu
http://linked.open...cep/pocetPrijemcu
http://linked.open...ocetSpoluPrijemcu
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  • Following the condition that the candidate of financial contribution was evaluated and afterwards selected by international provider in accordance with the rules of the program the Ministry of Education, Youth ans Sports does not realize the evaluation of project results. The project is evaluated only after its approval by an international provider. (en)
  • Hodnocení výsledků řešení ministerstvo neprovádí, neboť podmínkou podpory je, že uchazeč byl vybrán mezinárodním poskytovatelem v souladu s pravidly příslušného programu. Projekt je hodnocen až po jeho schválení mezinárodním poskytovatelem. (cs)
http://linked.open...tniCyklusProjektu
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