arXiv AI

Incorporating LLM Embeddings for Variation Across the Human Genome

arXiv AI
Aug 12

JEPA-DNA: Grounding Genomic Foundation Models through Joint-Embedding Predictive Architectures

arXiv:2602. 17162v3 Announce Type: replace Abstract: Genomic Foundation Models (GFMs) typically rely on Masked Language Modeling (MLM) or Next-Token Prediction (NTP) to learn the "Laws of Nature".

By Ariel Larey, Elay Dahan, Amit Bleiweiss, Raizy Kellerman, Guy Leib, Omri Nayshool, Dan Ofer, Tal Zinger, Dan Dominissini, Gideon Rechavi, Nicole Bussola, Simon Lee, Shane O'Connell, Dung Hoang, Marissa Wirth, Alexander W. Charney, Nati Daniel, Yoli Shavit
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
arXiv Machine Learning
Aug 19

Quantifying Memorization and Privacy Risks in Genomic Language Models

The paper introduces a comprehensive privacy evaluation framework for genomic language models (GLMs) that quantifies memorization risks using perplexity-based detection, canary sequence extraction, and membership inference. By planting canary sequences at different repetition rates in synthetic and real datasets, the authors systematically assess how repetition, model capacity, and training dynamics affect memorization across various GLM architectures. The study demonstrates that GLMs do memorize training data to varying degrees and that no single attack method fully captures this risk, highlighting the necessity of multi-vector privacy auditing for genomic AI systems.

By Alexander Nemecek, Wenbiao Li, Xiaoqian Jiang, Jaideep Vaidya, Erman Ayday
arXiv AI
Sep 7

A Semantic Model of Genetic Evidence: A Step Toward Bridging the Basic-Science-Clinic Gap

The article presents a new semantic model for representing scientific evidence, specifically tailored to genetics, that extends existing standards by adding fine‑grained, domain‑specific structure. It aligns with FHIR Evidence and SEPIO, incorporates a compact vocabulary validated by SHACL, and was tested in a human‑AI annotation pilot on six genetics papers, producing 28 evidence items and 95 source‑anchored assertions. The authors argue that this model advances trustworthy, AI‑ready infrastructure for variant interpretation by providing a reference data model and validation schema for genetic evidence.

By Michael Bouzinier, Dmitry Etin
arXiv Machine Learning
Aug 4

xMICD: Explainable Representation of Multiple ICD Codes

arXiv:2608. 00935v1 Announce Type: new Abstract: Electronic Health Records (EHRs) are widely used for clinical risk prediction using machine learning.

By Pat Vatiwutipong, Kumkup Keeratisiwakul, Albert Phuoc Kien Van Truong, Nutcha Yodrabum, Wasin Pansiritanachot, Marvin N. Wright, Thanapon Noraset
arXiv AI
Sep 3

General Demographic Pre-trained Models for Enhancing Predictive Performance Across Diseases and Population

The paper introduces the General Demographic Pre-trained (GDP) model, a lightweight foundation model that learns representations from the two most common clinical attributes—age and sex. By optimizing encoding and visit‑reordering strategies, GDP embeddings are shown to improve predictive performance when concatenated with raw features across various disease and geographic cohorts. The model outperforms several state‑of‑the‑art tabular foundation models and tree‑based algorithms, demonstrating that enriched demographic embeddings can enhance classification tasks while remaining fully compatible with standard classifiers.

By Li-Chin Chen, Ji-Tian Sheu, Yuh-Jue Chuang
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
Hugging Face Trending Papers
Jun 8

From Hazard Functions to Language Space: Cox-Supervised Distillation of Survival Risk into a Large Language Model

We investigate whether information about time-to-event risk estimated by a Cox proportional hazards model can be transferred into a generative large language model. We propose a text-based survival modelling pipeline in which structured clinical covariates are converted into text prompts and a Qwen-based large language model is fine-tuned to generate patient-specific survival risk using Cox model predictions as a training target.