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Evaluating deep learning for predicting epigenomic profiles

delete2022-12-05
delete23
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OA
AI
S
Shushan Toneyan
Z
Ziqi Tang
P
Peter K. Koo *
DOI:10.1038/s42256-022-00570-9delete
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摘要

摘要

En 中文
Deep learning has been successful at predicting epigenomic profiles from DNA sequences. Most approaches frame this task as a binary classification relying on peak callers to define functional activity. Recently, quantitative models have emerged to directly predict the experimental coverage values as a regression. As new models with different architectures and training configurations continue to emerge, a major bottleneck is forming due to the lack of ability to fairly assess the novelty of proposed models and their utility for downstream biological discovery. Here we introduce a unified evaluation framework and use it to compare various binary and quantitative models trained to predict chromatin accessibility data. We highlight various modelling choices that affect generalization performance, including a downstream application of predicting variant effects. In addition, we introduce a robustness metric that can be used to enhance model selection and improve variant effect predictions. Our empirical study largely supports that quantitative modelling of epigenomic profiles leads to better generalizability and interpretability.
Keyword:
TRANSCRIPTION FACTOR-BINDING

期刊

Nature Machine Intelligence 封面图
Nature Machine Intelligence
IF:
23.9
论文数:
1.3K
被引数:
1.5W

机构

C
Cold Spring Harbor Laboratory
学者数:
2.8K
论文数: 1.7K
被引数: 7.2K
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