ANC Workshop - 05/05/2020



Artur Bekasov

Speaker 1

Kashyap Chhatbar


Quantitative analysis questions the role of MeCP2 in alternative splicing


MeCP2 is an abundant protein in mature nerve cells, where it binds to DNA sequences containing methylated cytosine. Mutations in the MECP2 gene cause the severe neurological disorder Rett syndrome (RTT), provoking intensive study of the underlying molecular mechanisms. Multiple functions have been proposed, one of which involves a regulatory role in splicing. Here we leverage the recent availability of high-quality transcriptomic data sets to probe quantitatively the potential influence of MeCP2 on alternative splicing. Using a variety of machine learning approaches that can capture both linear and non-linear associations, we show that widely different levels of MeCP2 have a minimal effect on alternative splicing in three different systems. Alternative splicing was also apparently indifferent to developmental changes in DNA methylation levels. Our results suggest that regulation of splicing is not a major function of MeCP2. They also highlight the importance of multi-variate quantitative analyses in the formulation of biological hypotheses.

Speaker 2

Magdalena Navarro


Using classification methods to infer new putative genes involved in Autism Spectrum Disorder


Autism Spectrum Disorder is a clinically and genetically heterogeneous neurodevelopmental disorder, with hundreds of genes and a variety of biological functions believed to be involved in it. Transcriptomic analysis has been widely used to study functional disruptions related to ASD, commonly using an unsupervised learning approach to identify dysregulated genes and biological pathways. We propose a method that uses information extracted from co-expression Networks and labels from the SFARI Gene database to train a classification method that can identify new putative genes related to this disorder, discuss some bias found in the data and present some preliminary results.


May 05 2020 -

ANC Workshop - 05/05/2020

Kashyap Chhatbar and Magdalena Navarro