# Transcending the Annotation Bottleneck: AI-Powered Discovery in Biology and Medicine

arXiv: https://arxiv.org/abs/2602.20100 · HTML: https://mlsanity.com/paper/2602.20100/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 11 of its 21 references that are in the map.
- First posted on arXiv 23 Feb 2026.

## Builds on (most cited first, 11 of 11)

- [A Simple Framework for Contrastive Learning of Visual Representations](https://mlsanity.com/paper/2002.05709/) (2020)
- [Emerging Properties in Self-Supervised Vision Transformers](https://mlsanity.com/paper/2104.14294/) (2021)
- [VoxelMorph: A Learning Framework for Deformable Medical Image Registration](https://mlsanity.com/paper/1809.05231/) (2018)
- [Big Self-Supervised Models Advance Medical Image Classification](https://mlsanity.com/paper/2101.05224/) (2021)
- [BEHRT: Transformer for Electronic Health Records](https://mlsanity.com/paper/1907.09538/) (2019)
- [ContIG: Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics](https://mlsanity.com/paper/2111.13424/) (2021)
- [MAD-AD: Masked Diffusion for Unsupervised Brain Anomaly Detection](https://mlsanity.com/paper/2502.16943/) (2025)
- [StRegA: Unsupervised Anomaly Detection in Brain MRIs using a Compact Context-encoding Variational Autoencoder](https://mlsanity.com/paper/2201.13271/) (2022)
- [Scale-Aware Contrastive Reverse Distillation for Unsupervised Medical Anomaly Detection](https://mlsanity.com/paper/2503.13828/) (2025)
- [Mamba Adaptive Anomaly Transformer with association discrepancy for time series](https://mlsanity.com/paper/2502.07858/) (2025)
- [MICDIR: Multi-scale Inverse-consistent Deformable Image Registration using UNetMSS with Self-Constructing Graph Latent](https://mlsanity.com/paper/2203.04317/) (2022)

## Abstract (arXiv)

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.