arXiv AI

DeepBD: A Grounded Agentic Workflow for Variant Prioritization and Diagnosis of Genetic Birth Defects

arXiv:2606. 24779v1 Announce Type: cross Abstract: Birth defects are a major cause of fetal loss, neonatal morbidity and long-term disability.

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 AI
Jul 28

RareLens: Towards End-to-End Rare Disease Care via Aligning Divergent Large Language Model Reasoning

arXiv:2607. 23290v1 Announce Type: new Abstract: Rare diseases collectively affect an estimated 3.

By Xi Chen, Hongru Zhou, Shiyu Feng, Hanyu Zhou, Huahui Yi, Rongsheng Wang, Tiancheng He, Kun Wang, Pingping Liu, Qiankun Li, Sicheng Lin, Huiying Ou, Xiaohong Zheng, Tianying Zang, Zhuohang Wu, Leheng Jiang, Kexin Cao, Wenhan Zhang, ChengYi Li, Zhiyang Wang, Songlin Li, Benyou Wang, Ningbei Yin, Shaoting Zhang, Weili Fu, Jian Li, Kang Li
arXiv AI
Jul 2

RareDxR1: Autonomous Medical Reasoning for Rare Disease Diagnosis Beyond Human Annotation

arXiv:2607. 00147v1 Announce Type: new Abstract: Rare disease differential diagnosis is a critical yet arduous clinical task, requiring physicians to identify precise phenotypes from complex, unstructured patient symptoms and execute intricate reasoning within a vast search space.

By Deyang Jiang, Haoran Wu, Ziyi Wang, Yiming Rong, Yunlong Zhao, Ye Jin, Bo Xu
arXiv AI
Jun 30

LUMEN: Cost-Transparent Multi-Agent Pipeline for Automated Systematic Review and Meta-Analysis

arXiv:2606. 28362v1 Announce Type: cross Abstract: Systematic reviews and meta-analyses (SR/MA) remain the gold standard for evidence synthesis, yet completing one typically requires 67 weeks and substantial expert effort.

By Yen-Hsun Huang (Department of Education, Taipei Veterans General Hospital, Taipei, Taiwan), Yu-Shiou Lin (Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan)
arXiv AI
Jun 16

MedCollab: IBIS-Guided Multi-Agent Collaboration with Hierarchical Disease Relation Chains for Clinical Diagnosis

arXiv:2603. 01131v3 Announce Type: replace-cross Abstract: Clinical diagnosis is a gradual process of evidence integration, in which physicians move from symptoms and medical history to examinations, competing hypotheses, disease relations, and treatment decisions.

By Yuqi Zhan, Xinyue Wu, Tianyu Lin, Yutong Bao, Xiaoyu Wang, Weihao Cheng, Huangwei Chen, Feiwei Qin, Zhu Zhu