arXiv AI By Shiyu Li, Ziqi Yan, Zhihao Wu, Jielong Lu, Weiran Liao, Jiajun Yu, Genjie Li, Zeyu Chu, Jiajun Bu, Haishuai Wang

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

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

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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
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