Deep learning-based splice-AI can help predict the onset of Alzheimer's disease
Korea Brain Research Institute (KBRI, President Suh Pann-ghill) announced that the research team led by Dr. Jae-Yeol Joo discovered new cryptic splice variants and SNVs in PLCg1 gene of AD-specific models for the first time using Splice-AI.
This research outcome was published in
PNAS, a world-renowned academic journal.
Prediction of Alzheimer's Disease-Specific phospholipase c gamma-1 SNV by Deep Learning-Based Approach for High-Throughput Screening
Alternative splicing variant regulates gene expression and influences diverse phenotypes. Especially, genetic variants arising due to RNA splicing are frequently found in individuals having neurodevelopmental disorders.