Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

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Journal of neuromuscular diseases, ISSN: 2214-3599, Vol: 3, Issue: 2, Page: 209-225

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Punetha, Jaya; Kesari, Akanchha; Uapinyoying, Prech; Giri, Mamta; Clarke, Nigel F.; Waddell, Leigh B.; North, Kathryn N.; Ghaoui, Roula; O’Grady, Gina L.; Oates, Emily C.; Sandaradura, Sarah A.; Bönnemann, Carsten G.; Donkervoort, Sandra; Plotz, Paul H.; Smith, Edward C.; Tesi-Rocha, Carolina; Bertorini, Tulio E.; Tarnopolsky, Mark A.; Reitter, Bernd; Hausmanowa-Petrusewicz, Irena; Hoffman, Eric P. Show More Hide
IOS Press
Neuroscience; Medicine; Integrative Biology; Systems Biology
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article description
Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for sequencing has traditionally entailed high costs and long turnaround times. Exome sequencing has begun to supplant single targeted genes, but there are concerns regarding coverage and needed depth of the very large and complex genes that frequently cause myopathies.