Machine Learning 101: Supervised vs Unsupervised Learning
The most fundamental split in machine learning, explained with examples from genomic data.
Almost every ML method falls into one of two camps, depending on whether the training data comes with "answers" attached.
Supervised learning
You have input data and the correct answer for each example, and the model learns the mapping between them. Two flavours:
- Classification - predicting a category. e.g. is this variant benign or pathogenic? Is this blood smear image showing signs of thalassemia or not?
- Regression - predicting a number. e.g. predicting a continuous risk score from lab values.
Common algorithms: logistic regression, random forests, gradient-boosted trees (XGBoost/LightGBM), and neural networks.
Unsupervised learning
There's no label - the goal is to find structure in the data itself.
- Clustering - grouping similar samples together (e.g. clustering patients by expression profile to discover disease subtypes you didn't know to look for).
- Dimensionality reduction - compressing thousands of features (e.g. gene expression values) down to a handful that capture most of the variation, often for visualisation (PCA, UMAP, t-SNE are the common tools here).
Where they meet in practice
Real projects often use both. A typical pattern in genomics: use unsupervised dimensionality reduction (PCA) to explore and QC a dataset first, spot batch effects or outliers, then train a supervised classifier on the cleaned data to make the actual prediction.
A note on evaluation
For clinical or diagnostic classifiers specifically, accuracy alone is a misleading metric - a model that always predicts "healthy" can score 95% accuracy on a rare-disease dataset while being useless. Sensitivity (catching true positives), specificity (avoiding false alarms), and AUC-ROC are the metrics that actually matter for this kind of work.
A Gentle Introduction to Machine Learning - StatQuest