A workflowr project.
Chris has been investigating two DHX38 (yeast PRP16) missense mutations which we hypothesize confer a splicing defect and a subsequent neuronal development condition when inherited biallelically. He has done some biochemistry with the orthologous yeast alleles in an in vitro splicing raction and he finds that one of the alleles increases the efficiency of the second step of splicing, and possibly altering the natural proofreading activity of PRP16 to sense splice site motifs. Here we have triplicate RNA-seq libraries of iPSC-derived neurons derived from a patient with the biallelic genotype, and triplicate libraries from iPSC-derived neurons derived from a healthy control individual.
This analysis is largely exploratory, we do not have strong prior expectations to see any particular kind of alternative splicing. I suppose it is reasonable to have some expectation that neuronal related genes will be mis-spliced or mis-expressed.
Code to execute the analysis described in the code/README.md. See site for more description of analysis and results.