Kristama Kristama

Deep Learning-Based Detection of Disease-Associated DNA motifs in Whole Exome Sequencing Data for Inherited Genetic Disorders

This study presents a deep learning framework for detecting disease-associated DNA sequence patterns in Whole Exome Sequencing (WES) data related to inherited genetic disorders. The proposed workflow combines sequence extraction, one-hot encoding, class balancing using the Synthetic Minority Over-sampling Technique (SM...