Detection of pre-mRNA involved in abnormal splicing using Graph Neural Network and Nearest Correlation Method.
Journal:
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference
PMID:
40040085
Abstract
BACKGROUND: DNA is the building block of genetic information, and is composed of alternating sequences of exons with genetic information and introns without no genetic information. DNA is damaged by normal metabolic activities and environmental factors, causing base substitutions. Changes at the single nucleotide level are called Single Nucleotide Variants (SNVs), which usually result in mRNAs that are non-pathogenic or produce harmless proteins by splicing. However, when pathogenic SNVs are present in DNA, abnormal RNA splicing may cause transcription and translation of the wrong genetic information, resulting in genetic diseases such as cancer.