All were patients in whom chromosome microarray testing had been requested independently of this study.
Although Potocki-Lupski syndrome was clinically characterized previously [ 89], the use of microarray-based testing has greatly improved the characterization of phenotypic spectrum and molecular analysis of the duplications found in the syndrome [ 90].
Microarray test methods have proven to be powerful tools for viral identification and subtyping [ 2, 22- 25].
"They are just not prepared for the uncertain information they are getting, often very late in a pregnancy," said Barbara A. Bernhardt, a genetic counselor at the University of Pennsylvania, who has interviewed women who have had microarray testing.
However, DNA microarray testing and analysis has evolved over many years through studies such as the MicroArray Quality Control (MAQC) project [ 65, 66] and further studies and cost reductions in sequencing are similarly required to develop RNA-seq analyses.
Although there are larger number of genes detected by F-test and T-test than that of genes selected by SWang, T-test and F-test have higher FPR with respect to non-Gaussian distribution of microarray [19].
Family 9 had chromosome microarray testing, followed by reanalysis of exome data (Ambry Genetics, Santa Clara, CA).
Family 8 had chromosome microarray testing, followed by ES analysis limited to a specific phenotype-driven gene list provided by the ordering clinician that included TANGO2.
The use of microarray testing in individuals with ASD and MCA has significantly increased the rate of identification of an underlying genetic etiology.
Microarray analysis showed all the strains tested had a single neurotoxin encoding gene with the type B gene associated with ha cluster, and type E toxin genes and type F toxin genes associated with orfX cluster.
