BaseCamp --- An Agentic AI Framework for Automating DNA Sequencing Data Pipelines
Authors: Eranga Bandara, Xueping Liang, Asanga Gunaratna, Tharaka Hewa, Abdul Rahman, Peter Foytik, Safdar H. Bouk, Sachini Rajapakse, +14 more
Organizations: Old Dominion University, Norfolk, VA, USA · Florida International University, USA · AI Motion Labs, Melbourne, Australia · Center for Wireless Communications, University of Oulu, Finland · Deloitte & Touche LLP, USA · Nanyang Technological University, Singapore · University of Colombo, Sri Lanka · Accenture Technology Labs, Arlington, VA, USA · GSI Scandinavia AB · Lithuanian University of Health Sciences
DNA sequencing pipelines, spanning quality control, alignment, variant calling, and annotation, are now reliably executed by workflow management systems that orchestrate established bioinformatics tools at scale. What remains manual is the decision layer surrounding that execution: selecting quality thresholds appropriate to a sample and platform, adjudicating borderline variant calls, diagnosing anomalies, and determining which findings warrant expert review. These decisions are repetitive, judgment-intensive, inconsistent across operators, and frequently undocumented. This paper introduces BaseCamp, a novel agentic AI framework for automating the decision layer of DNA sequencing pipelines. The framework decomposes the pipeline into six specialized AI agents, covering sample intake and quality control, alignment, variant calling, annotation, cross-stage monitoring, and reporting. Critically, BaseCamp agents do not perform sequence analysis: established tools execute alignment, calling, and annotation, while the agents select among them, configure them, interpret their output, and decide what follows. This confines language model reasoning to the judgment layer where it is reliable and preserves the reproducibility existing tooling guarantees. Agent reasoning is powered by a consortium of fine-tuned, domain-specialized large language models coordinated by a central reasoning LLM, executing locally so no sequencing data leaves the operating environment, under human-in-the-loop orchestration. Evaluation shows agent-generated configurations are concordant with expert practice, that an explicit filtering ledger renders inspectable what filtering otherwise removes without trace, and that cross-stage anomaly detection surfaces conditions execution monitoring misses. BaseCamp offers a generalizable blueprint for agentic automation of scientific data pipelines.
As pathogen genomic surveillance scales, the bottleneck is shifting from data generation to analysis. We present BioSecBench-Surveillance, a verifiable benchmark of 100 evaluations testing whether AI agents can infer the right analysis pipeline from raw sequencing data and surveillance context. Each evaluation gives an agent only the data and context a human analyst would have, then grades its structured answer deterministically. The tasks span seven categories, from taxonomic classification to genetic-engineering detection, across diverse sample types and sequencing technologies. Across 3,962 gradable attempts from sixteen model-harness pairs, the strongest configuration cleared only about half. Opus 4.8 with PI led at 50.2 percent, with a 95 percent confidence interval of 40.1 to 60.3 percent across 83 evaluations, tied with GPT-5.5 with Codex at 50.2 percent, with a 95 percent confidence interval of 40.8 to 59.6 percent, followed by Opus 4.7 with PI at 49.6 percent, with a 95 percent confidence interval of 40.0 to 59.2 percent, and Sonnet 4.6 with PI at 48.6 percent, with a 95 percent confidence interval of 38.9 to 58.3 percent. Even when agents invoked the correct workflows, their mistakes came from the choices around them, such as which references, thresholds, filters, and normalization to apply. BioSecBench-Surveillance provides a standard for measuring whether agents can be trusted to perform genomic surveillance when the next outbreak arrives.
We introduce EpiBench, a verifiable benchmark for short-horizon epigenomics analysis. EpiBench evaluates whether agents can make well-defined analysis decisions from realistic workflow states and return deterministically gradable answers. The benchmark includes 106 evaluations across CUT&Tag/CUT&RUN, ATAC-seq, ChIP-seq, and DNA methylation workflows. Across 5,088 valid trajectories from 16 model-harness pairs, no system passed a majority of attempts: GPT-5.5 / Pi led at 45.0% (143/318 attempts; 95% confidence interval (CI), 36.3--53.7), followed by GPT-5.5 / OpenAI Codex at 39.9% (127/318 attempts; 95% CI, 31.6--48.3). Claude Opus 4.8 Max / Pi and GPT-5.4 / Pi each passed 39.0% (124/318 attempts; 95% CI, 30.2--47.8 and 31.0--47.0, respectively). Performance varies across assay types, and many failed runs still contain parts of the correct answer. Agents often found the right files and computed useful intermediate results, but failed when the task required deeper, assay-specific scientific judgment.
Harihara Muralidharan, Reema Baskar, Soo Hee Lee +2
Scientific workflow systems automate execution -- scheduling, fault tolerance, resource management -- but not the semantic translation that precedes it. Scientists still manually convert research questions into workflow specifications, a task requiring both domain knowledge and infrastructure expertise. We propose an agentic architecture that closes this gap through three layers: an LLM interprets natural language into structured intents (semantic layer); validated generators produce reproducible workflow DAGs (deterministic layer); and domain experts author ``Skills'': markdown documents encoding vocabulary mappings, parameter constraints, and optimization strategies (knowledge layer). This decomposition confines LLM non-determinism to intent extraction: identical intents always yield identical workflows. We implement and evaluate the architecture on the 1000 Genomes population genetics workflow and Hyperflow WMS running on Kubernetes. In an ablation study on 150 queries, Skills raise full-match intent accuracy from 44% to 83%; skill-driven deferred workflow generation reduces data transfer by 92%; and the end-to-end pipeline completes queries on Kubernetes with LLM overhead below 15 seconds and cost under $0.001 per query.
Bartosz Balis, Michal Orzechowski, Piotr Kica +2
AGH University of Krakow, Krakow, Poland · Sano Centre for Computational Medicine, Krakow, Poland