- Uploaded denovo_db TSV file to MySQL database
- Score SNVs for splicing and pathogenicity
- Feasibility analysis
- Construct model
Predicting Pathogenicity using Aberrant Splicing Predictions of Single Nucleotide Variants in Autism Spectrum Disorder
Is it possible to use the likelihood that an SNV causes aberrant splicing to predict that SNV’s pathogenicity in the context of Autism Spectrum Disorder?
- Hypothesis: Using a Bayesian inference model, the likelihood that a SNV causes aberrant splicing (like cassette exon skipping) can be used to predict the presence of the disease phenotype when that SNV targets a gene co-expression network hub