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    Genomic medicine for the paediatrician.

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    Author
    Hastings, Richard
    Keyword
    Genetics
    Genomics
    Variant
    Whole genome sequencing
    Date
    2019-04
    
    Metadata
    Show full item record
    Publisher's URL
    https://www.paediatricsandchildhealthjournal.co.uk/article/S1751-7222(19)30015-0/fulltext
    Abstract
    Genomic medicine is the use of sequence data from an individual's entire genetic code to aid diagnosis and personalise therapeutic options. An important goal of the 100,000 genomes project in the UK is to embed the infrastructure for the widespread use of whole genome sequencing into the National Health Service. Paediatricians will be at the forefront in using this new technology in the diagnosis of children with multiple congenital anomalies, developmental delay and other suspected genetic conditions. This article provides a description of the basic concepts of genomic medicine. The types of genomic testing that are available are discussed and examples of how genomics is already being used in paediatrics are given. Finally, the challenges for genomic medicine are summarised.
    Citation
    Hastings, R. and Dixit, A. (2019) ‘Genomic medicine for the paediatrician’, Paediatrics and Child Health, 29(4), pp. 185–189
    Publisher
    Paediatrics and Child Health
    Type
    Article
    URI
    http://hdl.handle.net/20.500.12904/15756
    Collections
    Paediatrics

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