arXiv AI

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.

arXiv AI
Jun 30

Data-Efficient Multimodal Alignment for Histopathology-based Molecular Prediction

arXiv:2606. 29949v1 Announce Type: cross Abstract: H&E-stained whole-slide images offer cohort-scale availability and rich spatial context but lack molecular specificity, whereas bulk RNA-seq provides transcriptome-wide resolution at high cost with limited archival availability.

By Dominik Winter, Dominik Vonficht, Lo\"ic Le Bescond, Christian Gebbe, Marco Rosati, Richard J. Chen, Markus Schick, Ross Stewart, Nicolas Brieu
arXiv Machine Learning
Jun 19

Computational Methods and Challenges in Cell-Free DNA Analysis for Multi-Cancer Early Detection

arXiv:2606. 20174v1 Announce Type: new Abstract: Cell-free DNA (cfDNA) is a promising avenue for non-invasive multicancer early detection (MCED), in that, it can enable multiple cancer detection simultaneously from a single blood draw, with particular sensitivity to cancers that currently lack established screening programs.

By Nicko Starkey, Marcin W. Wojewodzic, Krzysztof Rzecki
arXiv Machine Learning
Sep 18

Transcriptomic Models for Immunotherapy Response Prediction Show Limited Cross-cohort Generalisability

The study evaluated nine transcriptomic models—five bulk RNA‑seq and four single‑cell RNA‑seq—designed to predict response to immune checkpoint inhibitors. Across independent datasets, bulk models performed near chance while single‑cell models offered only modest gains, and pathway analyses revealed inconsistent biomarker signals. The results highlight the limited cross‑cohort robustness and biological consistency of current transcriptomic ICI predictors.

By Yuheng Liang, Lucy Chhuo, Ahmadreza Argha, Nona Farbehi, Lu Chen, Roohallah Alizadehsani, Mehdi Hosseinzadeh, Min Yang, Thantrira Porntaveetusm, Youqiong Ye, Hamid Alinejad-Rokny
arXiv AI
Jul 7

Predicting Therapeutic Outcome via Aligning Patient-Specific Knowledge Graph and Gene-Level Perturbation Representations

arXiv:2607. 04557v1 Announce Type: cross Abstract: Accurate prediction of patient-specific therapeutic response from pre-treatment transcriptomes is hindered by the scarcity of matched clinical response labels and post-treatment molecular profiles.

By Dongmin Bang, Sugyun An, Inyoung Sung, Ilho Yun, Sun Kim, Sangseon Lee
Hugging Face Trending Papers
Jul 6

Predicting Therapeutic Outcome via Aligning Patient-Specific Knowledge Graph and Gene-Level Perturbation Representations

Accurate prediction of patient-specific therapeutic response from pre-treatment transcriptomes is hindered by the scarcity of matched clinical response labels and post-treatment molecular profiles. Preclinical transfer-learning models can simulate drug-induced expression changes but are often hard to interpret and unstable, whereas knowledge-graph methods provide mechanistic context yet remain static and fail to capture drug-induced transcriptomic perturbation dynamics.

arXiv Machine Learning
Aug 26

A Multimodal Foundation Model for Longitudinal Patient Representation and Scalable Insight Generation in Oncology

arXiv:2608.24688v1 Announce Type: new Abstract: Precision oncology necessitates a longitudinal model of patient state that captures cancer evolution and treatment over time, integrating multimodal ob...

By Eugene Vorontsov, Yi Kan Wang, Alican Bozkurt, Adam Casson, Ludmila Tydlitatova, Michal Zelechowski, Ezra E. W. Cohen, Jyoti D. Patel, Max Banaszak, Caitlin McWilliams, Shane Colley, Kate Sasser, Ryan Fukushima, Eric Lefkofsky, Razik Yousfi, Siqi Liu