Syllogistic reasoning is crucial for Natural Language Inference (NLI). This capability is particularly significant in specialized domains such as biomedicine, where it can support automatic evidence interpretation and scientific discovery. This paper presents SylloBio-NLI, a novel framework that leverages external ontologies to systematically instantiate diverse syllogistic arguments for biomedical NLI. We employ SylloBio-NLI to evaluate Large Language Models (LLMs) on identifying valid conclusions and extracting supporting evidence across 28 syllogistic schemes instantiated with human genome pathways. Extensive experiments reveal that biomedical syllogistic reasoning is particularly challenging for zero-shot LLMs, which achieve an average accuracy between 70% on generalized modus ponens and 23% on disjunctive syllogism. At the same time, we found that few-shot prompting can boost the performance of different LLMs, including Gemma (+14%) and LLama-3 (+43%). However, a deeper analysis shows that both techniques exhibit high sensitivity to superficial lexical variations, highlighting a dependency between reliability, models’ architecture, and pre-training regime. Overall, our results indicate that, while in-context examples have the potential to elicit syllogistic reasoning in LLMs, existing models are still far from achieving the robustness and consistency required for safe biomedical NLI applications.

The sparsity of labeled data is an obstacle to the development of Relation Extraction (RE) models and the completion of databases in various biomedical areas. While being of high interest in drug-discovery, the literature on natural products, reporting the identification of potential bioactive compounds from organisms, is a concrete example of such an overlooked topic. To mark the start of this new task, we created the first curated evaluation dataset and extracted literature items from the LOTUS database to build training sets. To this end, we developed a new sampler, inspired by diversity metrics in ecology, named Greedy Maximum Entropy sampler (https://github.com/idiap/gme-sampler). The strategic optimization of both balance and diversity of the selected items in the evaluation set is important given the resource-intensive nature of manual curation. After quantifying the noise in the training set, in the form of discrepancies between the text of input abstracts and the expected output labels, we explored different strategies accordingly. Framing the task as an end-to-end Relation Extraction, we evaluated the performance of standard fine-tuning (BioGPT, GPT-2, and Seq2rel) and few-shot learning with open Large Language Models (LLMs) (LLaMA 7B-65B). In addition to their evaluation in few-shot settings, we explore the potential of open LLMs as synthetic data generators and propose a new workflow for this purpose. All evaluated models exhibited substantial improvements when fine-tuned on synthetic abstracts rather than the original noisy data. We provide our best performing (F1-score = 59.0) BioGPT-Large model for end-to-end RE of natural products relationships along with all the training and evaluation datasets. See more details at https://github.com/idiap/abroad-re.

Specialized transformers-based models (such as BioBERT and BioMegatron) are adapted for the biomedical domain based on publicly available biomedical corpora. As such, they have the potential to encode large-scale biological knowledge. We investigate the encoding and representation of biological knowledge in these models, and its potential utility to support inference in cancer precision medicine—namely, the interpretation of the clinical significance of genomic alterations. We compare the performance of different transformer baselines; we use probing to determine the consistency of encodings for distinct entities; and we use clustering methods to compare and contrast the internal properties of the embeddings for genes, variants, drugs, and diseases. We show that these models do indeed encode biological knowledge, although some of this is lost in fine-tuning for specific tasks. Finally, we analyze how the models behave with regard to biases and imbalances in the dataset.