Copy number variation analysis increases the diagnostic yield in muscle diseases

Salla Välipakka,Marco Savarese,M. Johari,L. Sagath,Meharji Arumilli,K. Kiiski,Amets Sáenz,Adolfo López de Munain,Ana Maria Cobo,Katarina Pelin,Bjarne Udd,Peter Hackman

Copy number variation analysis increases the diagnostic yield in muscle diseases

2017

Salla Välipakka
Marco Savarese
M. Johari
L. Sagath
Meharji Arumilli
K. Kiiski
Amets Sáenz
Adolfo López de Munain
Ana Maria Cobo
Katarina Pelin
Bjarne Udd
Peter Hackman

Objective: Copy number variants (CNVs) were analyzed from next-generation sequencing data, with the aim of improving diagnostic yield in skeletal muscle disorder cases.

Keywords:

Genetics
Copy-number variation
Biology
Gene
Titin
Muscular dystrophy
Comparative genomic hybridization
Compound heterozygosity
Myopathy
Mutation

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