Transcending the Annotation Bottleneck: AI-Powered Discovery in Biology and Medicine
Organizations: Human Technopole, Milan, Italy · Faculty of Computer Science, Otto von Guericke University Magdeburg, Magdeburg, Germany
Abstract
The dependence on expert annotation has long constituted the primary rate-limiting step in the application of artificial intelligence to biomedicine. While supervised learning drove the initial wave of clinical algorithms, a paradigm shift towards unsupervised and self-supervised learning (SSL) is currently unlocking the latent potential of biobank-scale datasets. By learning directly from the intrinsic structure of data - whether pixels in a magnetic resonance image (MRI), voxels in a volumetric scan, or tokens in a genomic sequence - these methods facilitate the discovery of novel phenotypes, the linkage of morphology to genetics, and the detection of anomalies without human bias. This article synthesises seminal and recent advances in "learning without labels," highlighting how unsupervised frameworks can derive heritable cardiac traits, predict spatial gene expression in histology, and detect pathologies with performance that rivals or exceeds supervised counterparts.
Unsupervised Learning
Unsupervised learning finds structure, useful representations, or generative models in data without task labels.
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Position: Unlabeled IS NOT Equal to No Human Supervision in Visual Learning
unsupervised.'' However, different data curation schemes and training objectives embed substantially different human priors on which models rely, and we argue that one unsupervised'' umbrella term is no longer capturing these distinctions. This ambiguity makes it harder to compare unsupervised learning research conducted under different assumptions, coinciding with a sharp decline in papers titled with ``unsupervised'' in flagship computer vision conferences since 2021, despite continued growth of the field. While we fully embrace pre-training as a strong foundation for modern computer vision, we advocate for a community-level effort toward greater conceptual clarity: authors are encouraged to disclose priors in data selection and learning objectives, and to specify which components of a learning pipeline depend on which assumptions. Standardized disclosure practices can improve academic communication, ensure fairer comparisons, and preserve methodological diversity in unsupervised learning.