Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results....

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Detalles Bibliográficos
Autores principales: Gorokhova, Svetlana, Cerino, Mathieu, Mathieu, Yves, Courrier, Sébastien, Desvignes, Jean-Pierre, Salgado, David, Béroud, Christophe, Krahn, Martin, Bartoli, Marc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803780/
https://www.ncbi.nlm.nih.gov/pubmed/27054082
http://dx.doi.org/10.1016/j.atg.2015.07.006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803780/
https://www.ncbi.nlm.nih.gov/pubmed/27054082
http://dx.doi.org/10.1016/j.atg.2015.07.006

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