Article
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Journal of neuromuscular diseases - 27 May 2016
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
Abstract excerpt
BACKGROUND: 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...
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