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

Citation data:

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

Publication Year:
2016
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Repository URL:
https://hsrc.himmelfarb.gwu.edu/smhs_intsysbio_facpubs/199
PMID:
27854218
DOI:
10.3233/jnd-160151
Author(s):
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
Publisher(s):
IOS Press
Tags:
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.