The first one is a study showing how NGS can be a useful and powerful method to improve diagnosis in syndromes with complex clinical presentation. The second paper illustrates the use of Solid and IonTorrent NGS platforms in diagnostic routine for the screening of BRCA mutations.
Exploring the utility of Whole-Exome Sequencing as a diagnostic tool in a child with Atypical Episodic Muscle Weakness.
Clin Genet. 2012 Aug 17
J Mol Diagn. 2012 Aug 22.