Performance on Multiple Splice Site Data Results

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

Feature subset selection for splice site prediction

MOTIVATION The large amount of available annotated Arabidopsis thaliana sequences allows the induction of splice site prediction models with supervised learning algorithms (see Haussler (1998) for a review and references). These algorithms need information sources or features from which the models can be computed. For splice site prediction, the features we consider in this study are the presen...

Splice Site Prediction Using Artificial Neural Networks

A system for utilizing an artificial neural network to predict splice sites in genes has been studied. The neural network uses a sliding window of nucleotides over a gene and predicts possible splice sites. Based on the neural network output, the exact location of the splice site is found using a curve fitting of a parabolic function. The splice site location is predicted without prior knowledg...

New Methods for Splice Site Recognition

Splice sites are locations in DNA which separate protein-coding regions (exons) from noncoding regions (introns). Accurate splice site detectors thus form important components of computational gene finders. We pose splice site recognition as a classification problem with the classifier learnt from a labeled data set consisting of only local information around the potential splice site. Note tha...