High-throughput sequencing and rare genetic diseases.
- Makrythanasis P Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
- Antonarakis SE
- 2013-01-08
Published in:
- Molecular syndromology. - 2012
English
High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.
- Language
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- English
- Open access status
- bronze
- Identifiers
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- DOI 10.1159/000343941
- PMID 23293577
- Persistent URL
- https://sonar.ch/global/documents/34244
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