Next generation sequencing in genetic diagnostics
Identifieur interne : 000626 ( Main/Exploration ); précédent : 000625; suivant : 000627Next generation sequencing in genetic diagnostics
Auteurs : Saskia Biskup [Allemagne]Source :
- LaboratoriumsMedizin [ 0342-3026 ] ; 2010-NaN-01.
Abstract
The introduction of next-generation sequencing technologies in human genetic diagnostics is a challenge to many of its aspects. It is mainly positive, even revolutionary, which will be discussed as well as its critical aspects. It used to take several months or years to complete genetic testing. This already belongs to the past. As sequencing technologies are progressing at an extremely high speed, Germany recently introduced the new Gen Diagnostics Law in February 2010. Four common diseases with genetic contribution (dementia, Parkinson's syndrome, epilepsy, and hereditary eye diseases) will be used to exemplify the latest development of human genetic testing.
Url:
DOI: 10.1515/jlm.2010.056et
Affiliations:
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<front><div type="abstract" xml:lang="en">The introduction of next-generation sequencing technologies in human genetic diagnostics is a challenge to many of its aspects. It is mainly positive, even revolutionary, which will be discussed as well as its critical aspects. It used to take several months or years to complete genetic testing. This already belongs to the past. As sequencing technologies are progressing at an extremely high speed, Germany recently introduced the new Gen Diagnostics Law in February 2010. Four common diseases with genetic contribution (dementia, Parkinson's syndrome, epilepsy, and hereditary eye diseases) will be used to exemplify the latest development of human genetic testing.</div>
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