Genes, Vol. 11, Pages 41: Local Epigenomic Data are more Informative than Local Genome Sequence Data in Predicting Enhancer-Promoter Interactions Using Neural Networks

Genes, Vol. 11, Pages 41: Local Epigenomic Data are more Informative than Local Genome Sequence Data in Predicting Enhancer-Promoter Interactions Using Neural Networks Genes doi: 10.3390/genes11010041 Authors: Mengli Xiao Zhong Zhuang Wei Pan Enhancer-promoter interactions (EPIs) are crucial for transcriptional regulation. Mapping such interactions proves useful for understanding disease regulations and discovering risk genes in genome-wide association studies. Some previous studies showed that machine learning methods, as computational alternatives to costly experimental approaches, performed well in predicting EPIs from local sequence and/or local epigenomic data. In particular, deep learning methods were demonstrated to outperform traditional machine learning methods, and using DNA sequence data alone could perform either better than or almost as well as only utilizing epigenomic data. However, most, if not all, of these previous studies were based on randomly splitting enhancer-promoter pairs as training, tuning, and test data, which has recently been pointed out to be problematic; due to multiple and duplicating/overlapping enhancers (and promoters) in enhancer-promoter pairs in EPI data, such random splitting does not lead to independent training, tuning, and test data, thus resulting in model over-fitting and over-estimating predictive performance. Here, after correcting this design issue, we extensively studied the performance of various deep learning mode...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research