Language. In the recent years, there has been an emerging focus on the phenotypic characterization of genetic epilepsies and neurodevelopmental disorders. With a rise in large-scale studies leveraging massive and complex genetic and phenotypic datasets, understanding how we make sense of big data becomes critical. However, determining what are clinically meaningful findings and communicating the conclusions we make from these datasets remain a challenge. While we typically think about data in the scope of ‘n’s, probabilities, and p-values, there is understated value in the visualization of information. Here is a different way of how we think about scientific communication and how we can “make data speak in childhood epilepsies.”
Tag Archives: dimensionality
The Excel contagion
The tale of 16,000 genes. For a recent analysis, I wanted to compile all the gene names of variants that were found in 12 of our EuroEPINOMICS research patients. Since I was planning to do some statistical analysis as well, I used the R package for this, my personal favourite for all kinds of statistics. I also have weak spot for Minitab and never got along with SPSS, but that is a different story. After I filtered and sorted the genes alphabetically, the following picture made me smile and gave me a reason to write a bit about role of Microsoft Excel for exome analysis…
