Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
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SHR Neuro Krebs Kardio Lipid Stoffw Microb
Schaflinger, E; Enko, D.
[The Impact of Next-Generation Sequencing on Medical Genetic Diagnostics and Counseling].
Dtsch Med Wochenschr. 2022; 147(20): 1336-1341.
Doi: 10.1055/a-1924-6646
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PubMed
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- Führende Autor*innen der Med Uni Graz
- Enko Dietmar
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- Abstract:
- Next-generation sequencing is a modern diagnostic high-throughput method (multi-gene analysis) that can be used to better diagnose both hereditary cancers (tumor disposition syndromes, germline diagnostics) and somatic mutations in tumors. The broad usage of this technology in daily clinical practice demonstrates the real interindividual genetic variability. This method has great importance for the investigation of heterogeneous genetic diseases (e. g. tumors, neurodegenerative and neuromuscular diseases). Further indications are pharmacogenetics and non-invasive prenatal diagnosis. It can be expected that this diagnostic tool will find wide clinical application. With the rapid increase and complexity of genetic data information, the correct interpretation and transmission of the results in the human genetic counseling (germline diagnostics) is of great importance. The genetic counseling must be realigned and adapted accordingly in daily clinical practice.
- Find related publications in this database (using NLM MeSH Indexing)
- Counseling - administration & dosage
- Female - administration & dosage
- Genetic Counseling - administration & dosage
- Genetic Testing - administration & dosage
- Genetics, Medical - administration & dosage
- High-Throughput Nucleotide Sequencing - methods
- Humans - administration & dosage
- Neoplasms - diagnosis
- Pregnancy - administration & dosage
- Find related publications in this database (Keywords)
- next-generation sequencing
- diagnostic impact
- genetic counseling