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Biology subjects

Tenmann, B.

Publications and source records attributed to Tenmann, B..

3 recordsLinked to original sources

PatchDNA: A Flexible and Biologically-Informed Alternative to Tokenization for DNA

AO_SCPLOWBSTRACTC_SCPLOWDNA language models are emerging as powerful tools for representing genomic sequences, with recent progress driven by self-supervised learning. However, performance on downstream tasks is sensitive to tokenization strategies reflecting the complex encodings in DNA, where both regulatory elements and single-nucleotide changes can be functionally significant. Yet existing models are fixed to their initial tokenization strategy; single-nucleotide encodings result in long sequences that challenge transformer architectures, while fixed multi-nucleotide schemes like byte pair encoding struggle with character level modeling. Drawing inspiration from the Byte Latent Transformers combining of bytes into patches, we propose that patching provides a competitive and more efficient alternative to tokenization for DNA sequences. Furthermore, patching eliminates the need for a fixed vocabulary, which offers unique advantages to DNA. Leveraging this, we propose a biologically informed strategy, using evolutionary conservation scores as a guide for patch boundaries. By prioritizing conserved regions, our approach directs computational resources to the most functionally relevant parts of the DNA sequence. We show that models up to an order of magnitude smaller surpass current state-of-the-art performance in existing DNA benchmarks. Importantly, our approach provides the flexibility to change patching without retraining, overcoming a fundamental limitation of current tokenization methods.

genomics↗

BioML-bench: Evaluation of AI Agents for End-to-End Biomedical ML

Large language model (LLM) agents hold promise for accelerating biomedical research and development (R&D). Several biomedical agents have recently been proposed, but their evaluation has largely been restricted to question answering (e.g., LAB-Bench) or narrow bioinformatics tasks. Presently, there remains a lack of benchmarks evaluating agent capability in multi-step data analysis workflows or in solving the machine learning (ML) challenges central to AI-driven therapeutics development, such as perturbation response modeling or drug toxicity prediction. We introduce BioML-bench, the first benchmarking suite for evaluating AI agents on end-to-end biomedical ML tasks. BioML-bench spans four domains (protein engineering, single-cell omics, biomedical imaging, and drug discovery) with tasks that require agents to parse a task description, build a pipeline, implement models, and submit predictions graded by established metrics (e.g., AUROC, Spearman). We evaluate four open-source agents: two biomedical specialists (STELLA, Biomni) and two generalists (AIDE, MLAgentBench). On average, agents underperform relative to human baselines, and biomedical specialization does not confer a consistent advantage. We also found that agents which employed more diverse ML strategies more often tended to score highest, suggesting that architecture and scaffolding may be stronger determinants of performance. These findings underscore both the potential and current limits of agentic systems for biomedical ML, and highlight the need for systematic, reproducible evaluations. BioML-bench is provided open-source at github.com/science-machine/biomlbench.

bioinformatics↗

funkea: Functional Enrichment Analysis in Python

AO_SCPLOWBSTRACTC_SCPLOWAdvancements in Genome-wide association studies (GWAS) have led to the discovery of numerous genetic variants potentially linked to various traits, necessitating effective methods to interpret and summarise these vast data sets. We introduce funkea, a Python package designed to fill this need by providing functional enrichment analysis methods. This tool encompasses popular enrichment approaches under a unified interface and leverages Spark for virtually limitless scale. This allows researchers to conduct pathway, cell-type, and tissue enrichment analysis across diverse annotation datasets. Ultimately, the funkea Python package delivers a highly flexible and scalable solution for functional enrichment analysis in the context of modern genetics workflows. https://github.com/BenevolentAI/funkea

bioinformatics↗