Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. Panel testing offers the ability to efficiently and cost-effectively screen all of the genes for a particular genetic disorder. We assessed the analytical s...

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Detalhes bibliográficos
Main Authors: Valencia, C. Alexander, Rhodenizer, Devin, Bhide, Shruti, Chin, Ephrem, Littlejohn, Martin Robert, Keong, Lisa Mari, Rutkowski, Anne, Bonnemann, Carsten, Hegde, Madhuri
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2012
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349841/
https://ncbi.nlm.nih.gov/pubmed/22426012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2012.01.009
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