About: Technological innovation of high troughput molecular diagnostic of clinically and molecularly heterogeneous genetic disorder

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About: Technological innovation of high troughput molecular diagnostic of clinically and molecularly heterogeneous genetic disorder Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Projekt, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	http://linked.opendata.cz/ontology/domain/vavai/Projekt
Description	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 (cs)
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 (cs)
http://linked.open...vai/cislo-smlouvy	http://linked.opendata.cz/resource/domain/vavai/cep/smlouva/1087/2011-321
http://linked.open...lsi-vedlejsi-obor	http://linked.opendata.cz/resource/domain/vavai/cep/obor/EB
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http://linked.open...domain/vavai/faze	http://linked.opendata.cz/resource/domain/vavai/cep/faze/54673462
http://linked.open...vavai/hlavni-obor	http://linked.opendata.cz/resource/domain/vavai/cep/obor/EB
http://linked.open...vai/vedlejsi-obor	http://linked.opendata.cz/resource/domain/vavai/cep/obor/EB
http://linked.open...vavai/id-aktivity	http://linked.opendata.cz/resource/domain/vavai/cep/aktivita/7E
http://linked.open.../vavai/id-souteze	http://linked.opendata.cz/resource/domain/vavai/cep/soutez/
http://linked.open...n/vavai/kategorie	http://linked.opendata.cz/resource/domain/vavai/cep/kategorie/1
http://linked.open...vai/klicova-slova	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...avai/konec-reseni	2012-02-29 (xsd:date)
http://linked.open...nujicich-prijemcu	0 (xsd:integer)
http://linked.open...avai/poskytovatel	http://linked.opendata.cz/resource/domain/vavai/cep/poskytovatel/MSM
http://linked.open...avai/start-reseni	2009-04-01 (xsd:date)
http://linked.open...ai/statni-podpora	171 (xsd:integer)
http://linked.open...vavai/typProjektu	http://linked.opendata.cz/resource/domain/vavai/cep/typ/P
http://linked.open...ai/uznane-naklady	171 (xsd:integer)
http://linked.open...ai/pocet-prijemcu	1 (xsd:integer)
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http://linked.open...ai/pocet-vysledku	0 (xsd:integer)
http://linked.open...ku-zverejnovanych	0 (xsd:integer)
is http://linked.open...ain/vavai/projekt of	http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2009/7E09052/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2010/7E09052/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2011/7E09052/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2012/7E09052/orjk-11130 http://linked.opendata.cz/resource/domain/vavai/cep/ucast/2013/7E09052/orjk-11130

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