MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

Mutations in ~100 genes cause muscle diseases with complex and often unexplained genotype/phenotype correlations. Next-generation sequencing studies identify a greater-than-expected number of genetic variations in the human genome. This suggests that existing clinical monogenic testing systematicall...

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Detalles Bibliográficos
Autores principales: Savarese, Marco, Di Fruscio, Giuseppina, Mutarelli, Margherita, Torella, Annalaura, Magri, Francesca, Santorelli, Filippo Maria, Comi, Giacomo Pietro, Bruno, Claudio, Nigro, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172906/
https://www.ncbi.nlm.nih.gov/pubmed/25214167
http://dx.doi.org/10.1186/s40478-014-0100-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172906/
https://www.ncbi.nlm.nih.gov/pubmed/25214167
http://dx.doi.org/10.1186/s40478-014-0100-3

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