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- Title
Delivery of a Clinical Genomics Service.
- Authors
Newman, William G.; Black, Graeme C.
- Abstract
Over the past five years, next generation sequencing has revolutionised the discovery of genes responsible for rare inherited diseases previously resistant to traditional discovery techniques. This review considers how this new technology is being introduced into clinical practice to aid diagnosis and improve the clinical management of individuals and families affected by rare diseases where access to genetic testing was previously limited. We compare and contrast the different approaches that have been adopted including panel based tests, exome and genome sequencing. We provide insights from our own clinical practice demonstrating the challenges and benefits of this new technology.
- Subjects
GENOMICS; GENOMES; NUCLEOTIDE sequence; GENETIC testing; RARE diseases
- Publication
Genes, 2014, Vol 5, Issue 4, p1001
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes5041001