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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2017-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-017-0006-7

Internet

https://doi.org/10.1038/s41525-017-0006-7

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