arXiv Statistics ML By Yiyao Yang

Robust Machine Learning for Regulatory Sequence Modeling under Biological and Technical Distribution Shifts

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The study evaluates the robustness of deep learning models for DNA regulatory sequence prediction under biologically and technically induced distribution shifts. Using a mechanistic simulation benchmark and a massively parallel reporter assay dataset, the authors show that while models perform well under mild GC content changes, they exhibit higher error, miscalibration, and coverage collapse when faced with motif rewiring, noise, and batch effects. Incorporating biological priors and uncertainty-aware selective prediction improves robustness, though protection against strong assay noise remains limited.

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arXiv AI
Jul 29

DeepVRegulome: DNABERT-based deep-learning framework for predicting the functional impact of short genomic variants on the human regulome

arXiv:2511. 09026v2 Announce Type: replace-cross Abstract: Whole-genome sequencing (WGS) has revealed numerous non-coding short variants whose functional impacts remain poorly understood.

By Pratik Dutta, Matthew Obusan, Rekha Sathian, Max Chao, Pallavi Surana, Nimisha Papineni, Yanrong Ji, Zhihan Zhou, Han Liu, Alisa Yurovsky, Ramana V Davuluri