Copy number variation analysis increases the diagnostic yield in muscle diseases

OBJECTIVE: Copy number variants (CNVs) were analyzed from next-generation sequencing data, with the aim of improving diagnostic yield in skeletal muscle disorder cases. METHODS: Four publicly available bioinformatic analytic tools were used to analyze CNVs from sequencing data from patients with mus...

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Detalles Bibliográficos
Autores principales: Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, Lopez de Munain, Adolfo, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140371/
https://www.ncbi.nlm.nih.gov/pubmed/30238059
http://dx.doi.org/10.1212/NXG.0000000000000204

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140371/
https://www.ncbi.nlm.nih.gov/pubmed/30238059
http://dx.doi.org/10.1212/NXG.0000000000000204

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