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

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

Abstract 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...

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Autores principales: Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/7b114791b2e44d7cabd2c2fc9832f309
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