#34 · Tools & infrastructure
Structured representations of biomedical papers and code for machine-usable evidence
Across these four records, the dominant thread is converting biomedical primary literature and associated code into structured, machine-usable representations. A semantic model and SHACL schema formalize genetic evidence from primary papers, piloted on six papers for variant interpretation; this work is a preprint. Contrastive learning produces interpretable adverse event vector representations from spontaneous reports, outperforming reporting odds ratio for machine-assisted pharmacovigilance. BioCon benchmarks paper-code consistency in bioinformatics, with a cross-modal framework for sentence-level detection and retrieval of implementation gaps. Its distinctive feature is checking reported methods against code rather than text alone. A review of machine learning variant effect predictors addresses feature orthogonality, circularity and bias, and concerns feature engineering more than literature extraction directly.
Published papers
Contrastive learning of adverse events to provide effective and interpretable vector representations for machine-assisted pharmacovigilance.
Adapts contrastive learning to create interpretable adverse event vector representations from spontaneous reports, outperforming reporting odds ratio and LLM…
Do papers tell the whole story? A benchmark and framework for uncovering hidden implementation gaps in bioinformatics.
Introduces BioCon, a benchmark for paper-code consistency in bioinformatics, plus a cross-modal framework for sentence-level detection, retrieval, and…
From conservation scores to language models: a feature engineering perspective on machine learning for genetic variant interpretation.
Reviews ML variant effect predictors, from conservation features to foundation models, and challenges of feature orthogonality, circularity and bias.
Preprints
A Semantic Model of Genetic Evidence: A Step Toward Bridging the Basic-Science-Clinic Gap
Semantic model and SHACL schema for genetic evidence from primary literature, piloted on six papers for variant interpretation.
Topic history
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| #34 | |
| #32 | |
| #37 | |
| #37 | |
| #39 |