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.”
Category Archives: data science
This was AES 2021 – five takeaways from Chicago
Pandemic. This year’s Annual Meeting of the American Epilepsy Society (AES) was the 75th meeting, but it was a meeting like no other. #AES2021 was the first in-person meeting for the international epilepsy community with many international participants unable to join due to local restrictions and the US-based audience split between participating in-person and joining remotely. However, despite the unusual format, this year’s meeting was bustling and full of excellent science. Here are my five takeaways from AES 2021. Continue reading
Make data speak in rare childhood epilepsies
Capturing data. While genetic analysis can be performed and investigated on an industrial scale in thousands of individuals in parallel, the analysis of clinical data is frequently still the domain of manual data curation. Clinical data is typically collected in a non-standardized way, which makes it difficult for information generated in a clinical context to be used in a systematic data analysis as can be performed with genomic data. However, the tide is turning, and we are slowly coming around to the idea that clinical data also requires the same degree of standardization in order to be used at scale. For none of the epilepsies is such standardization more important than for the rare epilepsies, which include many of the genetic epilepsies. Our lab has been working on frameworks and methods to allow for this kind of analysis in genetic epilepsies. Here is a brief summary of what it actually means to “make data speak”, which has become the mission statement of our lab. Continue reading
