KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
A New Approach to Immune Cell Analysis
March 09, 2010
Researchers at Stanford University have come up with a new approach to analyzing immune cells that identifies changes in small samples of human whole blood, and has the potential to distinguish between health and disease states. The new method, published in Nature Methods, seeks to bypass the problems that come from trying to interpret microarray analysis of blood with a mix of immune cells — current methods don't take into account the wide variation in the proportion of each cell type, even in healthy people. The Stanford team developed a computational approach, called cell specific significance analysis of microarrays, that use a mathematical approach to separate out the different cell types found in blood, determine the gene expression, and identify which changes are due to disease and which are simply variations in cell proportions.