Computational prediction of human deep intronic variation

P Barbosa, R Savisaar, M Carmo-Fonseca… - …, 2023 - academic.oup.com
Background The adoption of whole-genome sequencing in genetic screens has facilitated
the detection of genetic variation in the intronic regions of genes, far from annotated splice …

Incorporating knowledge of disease-defining hub genes and regulatory network into a machine learning-based model for predicting treatment response in lupus …

DJ Lee, PH Tsai, CC Chen, YH Dai - Journal of Translational Medicine, 2023 - Springer
Background Identifying candidates responsive to treatment is important in lupus nephritis
(LN) at the renal flare (RF) because an effective treatment can lower the risk of progression …

Transfer learning in brain tumor classification: challenges, opportunities, and future prospects

RW Anwar, M Abrar, F Ullah - 2023 14th International …, 2023 - ieeexplore.ieee.org
Brain tumor classification plays a critical role in diagnosing and treating patients effectively.
However, the limited availability of annotated data and the complexity of tumor images …

Chromatin accessibility is a two-tier process regulated by transcription factor pioneering and enhancer activation

KJ Brennan, M Weilert, S Krueger, A Pampari, HY Liu… - bioRxiv, 2022 - biorxiv.org
Chromatin accessibility is integral to the process by which transcription factors (TFs) read out
cis-regulatory DNA sequences, but it is difficult to differentiate between TFs that drive …

Progress and Opportunities of Foundation Models in Bioinformatics

Q Li, Z Hu, Y Wang, L Li, Y Fan, I King, L Song… - arXiv preprint arXiv …, 2024 - arxiv.org
Bioinformatics has witnessed a paradigm shift with the increasing integration of artificial
intelligence (AI), particularly through the adoption of foundation models (FMs). These AI …

Interpretable deep learning in single-cell omics

MM Wagle, S Long, C Chen, C Liu, P Yang - Bioinformatics, 2024 - academic.oup.com
Motivation Single-cell omics technologies have enabled the quantification of molecular
profiles in individual cells at an unparalleled resolution. Deep learning, a rapidly evolving …

Integrating Machine Learning in Metabolomics: A Path to Enhanced Diagnostics and Data Interpretation

Y Xu, L Cao, Y Chen, Z Zhang, W Liu, H Li… - Small …, 2024 - Wiley Online Library
Metabolomics, leveraging techniques like NMR and MS, is crucial for understanding
biochemical processes in pathophysiological states. This field, however, faces challenges in …

Amazing Things Come From Having Many Good Models

C Rudin, C Zhong, L Semenova, M Seltzer… - arXiv preprint arXiv …, 2024 - arxiv.org
The Rashomon Effect, coined by Leo Breiman, describes the phenomenon that there exist
many equally good predictive models for the same dataset. This phenomenon happens for …

[HTML][HTML] Improving the Prognostic Evaluation Precision of Hospital Outcomes for Heart Failure Using Admission Notes and Clinical Tabular Data: Multimodal Deep …

Z Gao, X Liu, Y Kang, P Hu, X Zhang, W Yan… - Journal of Medical …, 2024 - jmir.org
Background Clinical notes contain contextualized information beyond structured data
related to patients' past and current health status. Objective This study aimed to design a …

Towards Generalizable Deepfake Detection by Primary Region Regularization

H Cheng, Y Guo, T Wang, L Nie… - arXiv preprint arXiv …, 2023 - arxiv.org
The existing deepfake detection methods have reached a bottleneck in generalizing to
unseen forgeries and manipulation approaches. Based on the observation that the deepfake …