Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
Genet Med. 2014 Aug 7. [Epub ahead of print]
Wang J, et al.
The authors attempted to confirm published noninvasive prenatal testing data using SNP arrays, karyotyping, and fluorescence in situ hybridization. The true positive rates for various trisomies detected by NIPT ranged from 93 percent for trisomy 21 to 38 percent for sex chromosome aneuploidy. According to the authors, the findings "raise concerns about the limitations of noninvasive prenatal testing" and "suggest the need for a careful interpretation of noninvasive prenatal testing results and cautious transmission of the same to providers and patients."
Comparison of gene expression microarray data with count-based RNA measurements informs microarray interpretation.
BMC Genomics. 2014 Aug 4;15(1):649. [Epub ahead of print]
Richard A, et al.
Using a set of human leukocyte subset RNA samples, the authors compared previously acquired microarray expression values with RNA molecule counts determined by NanoString Technologies' nCounter Analysis System in selected genes. They found that gene measurements across samples correlated well between the two platforms, particularly for high-variance genes, while genes deemed unexpressed by the nCounter generally had both low expression and low variance on the microarray. The authors urged microarray users to consider expression-level effects in signal interpretation and to evaluate noise properties in each dataset independently.
Multiplex detection of gastrointestinal pathogens: a comparative evaluation of two commercial panels using clinical stool specimens.
J Clin Microbiol. 2014 Aug 6. [Epub ahead of print]
Khare R, et al.
In this study, the authors evaluated BioFire Diagnostics' FilmArray Gastrointestinal Panel and Luminex's xTag Gastrointestinal Pathogen Panel as well as routine methods, such as culture, in 500 stool samples. Both multiplex panels demonstrated high sensitivity for the majority of targets, with the exception of several pathogens. The FilmArray and Luminex panels identified mixed infections at higher rates than routine methods.