Alternative Splice Variants in Gene Expression Values in Patients with Marfanâ??s Syndrome

Wouter Ouwerkerk

Abstract

Alternative splicing of messenger RNAs provides cells with the opportunity to create protein isoforms of a multitude of functions from a single gene by excluding or including exons during posttranscriptional processing. Reconstructing the contribution of these splice variants on the total amount of gene expression remains difficult. We introduced a probabilistic formulation of the alternative splicing reconstruction problem using a finite mixture model, and provide a solution based on the maximum likelihood principle.