Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare dis...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Schofield, Deborah, Alam, Khurshid, Douglas, Lyndal, Shrestha, Rupendra, MacArthur, Daniel G., Davis, Mark, Laing, Nigel G., Clarke, Nigel F., Burns, Joshua, Cooper, Sandra T., North, Kathryn N., Sandaradura, Sarah A., O’Grady, Gina L.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Perspective
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5677979/
https://ncbi.nlm.nih.gov/pubmed/29152331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0006-7
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