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.
* (Title) 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.
The research team revealed splicing hidden within the transcriptome to AD models via deep learning-based Splice-AI.
The novel 14 alternative splicing sites in the PLCg1 gene body, the key element of the signal transduction mechanism, were identified through deep learning.
Especially, Splice-AI analysis predicted a total of 14 splicing sites in the human PLCg1 gene, accurate