Bioinformatics Visualization

Fifteen interactive explanations of the visual language used in modern bioinformatics.

Modern biology is a data science. The challenge is making sense of measurements across thousands of cells, millions of DNA bases, and dozens of patient cohorts. Bioinformatics has developed a distinctive visual vocabulary for these high-dimensional landscapes.

The series introduces the core vocabulary, then follows one biological story — the relationship between TP53 and CDKN1A — across mutations, expression, methylation, and networks.

The vocabulary

Five semantic colors recur across the techniques.

gene
A genomic feature being measured, a locus, transcript, or variant.
gene bodies · exons · SNPs · protein domains
sample
An individual patient, cell, or replicate, one observation in the cohort.
heatmap columns · oncoprint tracks · single cells
expression
Measured signal intensity, how much of something there is.
read counts · log-fold-change · heatmap cell values · peak height
significance
Statistical thresholds and called hits, what rises above the noise floor.
p-values · FDR cutoffs · volcano hits · GWAS peaks
pathway
Structural or functional connections, the wiring between features.
pathway edges · PPI networks · ChIP-seq binding · chord links