arXiv:2609.10055v1 Announce Type: cross Abstract: Biomedical ontology normalization maps free-text expressions to standardized concepts, enabling consistent integration and analysis of biomedical dat...
Biomedical ontology normalization maps free-text expressions to standardized concepts, enabling consistent integration and analysis of biomedical data. This task remains challenging because lexical va...
arXiv:2609.35549v2 Announce Type: replace Abstract: Rare-disease diagnosis is a long-tail reasoning problem: phenotypes are incomplete, individual disorders are sparsely documented, and relevant evid...
arXiv:2608. 04144v1 Announce Type: cross Abstract: Biomedical entity linking grounds mentions in clinical and scientific text to entities in a curated knowledge base (KB) with ontological structure, which supports downstream applications such as literature-scale information extraction and patient-record normalization.
The paper proposes a behavior-based fusion model that combines large language models (LLMs) with ontology rankers to improve rare-disease diagnosis. By examining ranked lists, agreement, and ontology support, the model learns how much to rely on each system per case, achieving significant recall gains on Phenopacket Store and RAMEDIS benchmarks. Importantly, the fused diagnoses retain candidate-level ontology evidence for inspection.
arXiv:2610.18672v1 Announce Type: cross Abstract: Biomedical language models (LMs) provide strong representations for clinical tasks, but they often fail to capture the hierarchical structure among m...
The paper presents an automated framework for building ontology networks by discovering typed semantic links between concepts across domains. It uses domain‑adapted DistilBERT embeddings, clustering to prune candidates, and GPT‑4o for generating interpretable relationships, reducing 800k raw pairs to 95k high‑quality candidates. Human validation on 429 links shows an 80.19% precision and 0.890 F1, outperforming five similarity‑based baselines and demonstrating the need for LLM reasoning in ontology link construction.
arXiv:2608.03154v2 Announce Type: replace Abstract: Biomedical relation extraction (BioRE) supports knowledge graph construction and hypothesis generation. In real-world settings, most candidate enti...
BELXTR is a new biomedical entity linking model that uses a multi‑vector (late interaction) architecture to preserve token‑level matching information, unlike traditional embedding‑based approaches that compress mentions into a single vector. By extending the XTR model with a task‑specific training objective and active query expansion, BELXTR achieves state‑of‑the‑art performance on half of ten evaluated corpora, with an average 5‑percentage‑point gain in recall@1. The model shows especially strong results on cross‑species gene disambiguation, outperforming an LLM‑powered retrieve‑and‑rerank pipeline and approaching a specialized rule‑based system.
EvidenceNet is a disease‑specific dataset that transforms full‑text biomedical literature into structured evidence records and graph representations, preserving study design, provenance, and quantitative support. Using an LLM‑assisted pipeline, it extracts experimentally grounded findings, normalizes entities, scores evidence quality, and links related records via typed semantic relations. The released subsets—EvidenceNet‑HCC and EvidenceNet‑CRC—contain thousands of evidence records and richly connected graphs, with high extraction and relation‑type accuracy, enabling retrieval‑augmented question answering and graph‑based tasks such as link prediction and target prioritization.
The paper presents a new retrieval benchmark for the model organism Dictyostelium, created from curator-generated queries linked to PubMed articles and gene annotations. It evaluates three niche retrieval strategies—cross‑encoder reranking, gene‑aware query expansion, and abstract‑only versus full‑text retrieval—finding that reranking and gene‑aware expansion improve results in specific contexts, while full‑text chunks boost recall and top‑rank performance when abstracts lack supporting evidence. The benchmark, data, and code are publicly released on GitHub and Zenodo.
arXiv:2608.31118v1 Announce Type: new Abstract: The effect of Large Language Model (LLM) scale on ontology learning (OL) performance remains insufficiently characterized. We present a controlled eval...