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AMED3001 Cancer

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Chapter 11 of 11 · AMED3001

Data Interpretation in Cancer Biology

This chapter gathers the data-interpretation skill the coordinator explicitly confirms is examinable across all modules: reading gene-expression heatmaps, volcano plots and single-cell clusters, and annotating gene sequences. The research papers themselves are not examined in detail — only the underlying concepts and the generic skill of reading these figures. Expect at least one data-interpretation item on the final (50%, confirm on Canvas), so practise the reading rules until they are automatic.

In this chapter

What this chapter covers

  • 01Why data interpretation is examinable (coordinator: heatmaps for gene expression, annotations for gene sequences)
  • 02Reading a gene-expression heatmap: rows = genes, columns = samples, colour = Row Z-score (red = up, blue = down), clustering groups similar profiles
  • 03Volcano plot: log2 fold-change on the x-axis, −log10 p-value on the y-axis; significant hits sit top-left/top-right (±2-fold, q < 0.05)
  • 04Single-cell UMAP/t-SNE clusters: each cluster a cell type (e.g. EPCAM-high = epithelial/tumour)
  • 05Gene-sequence annotation: promoter, exons and introns; sense vs anti-sense strand
  • 06Variant interpretation: ClinVar (pathogenic vs benign), COSMIC (reported somatic), cross-species conservation (conserved → likely damaging)
  • 07Mutational-landscape (oncoprint) and ctDNA reading
Worked example · free

Reading a heatmap and a volcano plot together

Q [4 marks]. In an RNA-seq study of tumour versus normal tissue, gene X appears red (high Row Z-score) in the tumour columns and blue in the normal columns of the heatmap, and sits in the top-right region of the volcano plot at log2 fold-change +3 with −log10 p-value = 5. Interpret these two figures for gene X. (4 marks)
  • +1Heatmap colour: on a Row Z-score scale red = above-average expression and blue = below-average, so gene X is expressed MORE in tumour samples than in normal samples.
  • +1Volcano x-axis: a log2 fold-change of +3 means gene X is about 2^3 = 8-fold higher in tumour than normal — a large UP-regulation (positive = up in tumour).
  • +1Volcano y-axis: −log10 p = 5 corresponds to p = 1×10⁻⁵, well below the usual q < 0.05 threshold, so the change is statistically significant (higher on the y-axis = more significant).
  • +1Combined interpretation: gene X is strongly and significantly UP-regulated in the tumour (about 8-fold, p = 10⁻⁵) — a candidate oncogenic driver or biomarker worth follow-up. Both figures agree, which strengthens the conclusion.
Gene X is up-regulated in the tumour: the heatmap shows red (high Z-score) in tumour columns, and the volcano plot places it top-right at log2FC +3 (about 8-fold up) with −log10 p = 5 (p = 10⁻⁵, significant). It is a strongly, significantly over-expressed candidate driver/biomarker.
Sia tip — Fix the axes before you read: heatmap red = up on a Row Z-score, volcano x = fold-change direction, volcano y = significance. Positive log2FC = up. Ask Sia to generate practice heatmaps and volcano plots and check your reading step by step.
Glossary

Key terms

Gene-expression heatmap
A grid where rows are genes and columns are samples, colour-coded by expression; supervised clustering groups similar profiles, and the colour scale (Row Z-score) shows relative up- or down-regulation.
Row Z-score
A per-gene standardisation used to colour a heatmap so each gene's expression is shown relative to its own mean across samples; red = above average (up), blue = below average (down).
Volcano plot
A scatter plot of log2 fold-change (x-axis) against −log10 p-value (y-axis); genes that are both strongly changed and highly significant sit in the top corners (typically ±2-fold, q < 0.05).
Log2 fold-change
The log base-2 of the expression ratio between conditions; +1 = 2-fold up, +3 = 8-fold up, negative values = down-regulation. Positive means higher in the test (e.g. tumour) sample.
ClinVar / COSMIC annotation
Reference databases used to annotate a variant: ClinVar classifies clinical significance (pathogenic vs benign), COSMIC records whether a variant has been reported as a somatic mutation in cancer.
Cross-species conservation
How conserved a residue is across species (e.g. from a multi-species alignment); a highly conserved position is likely functionally important, so a variant there is more likely damaging.
FAQ

Data Interpretation in Cancer Biology FAQ

Do I really need to read heatmaps and volcano plots for the AMED3001 exam?

Yes — the unit coordinator explicitly states that data-interpretation is examinable, naming heatmaps for gene-expression analyses and annotations for gene sequences. The papers you analysed are not examined in detail, but the generic skill of reading these figures is, so practise it directly.

What does the colour mean on a gene-expression heatmap?

On a Row Z-score scale, red means a gene is expressed above its average across samples (up-regulated) and blue means below average (down-regulated); columns cluster samples with similar profiles and rows cluster co-expressed genes. Always check the legend, as colour conventions can be reversed.

How do I read a volcano plot quickly?

The x-axis is log2 fold-change (direction and size of change; positive = up) and the y-axis is −log10 p-value (higher = more significant). Genes in the top-left and top-right corners are the significant down- and up-regulated hits, usually beyond ±2-fold and q < 0.05.

Can AI help me practise cancer-data interpretation?

Yes — Sia can generate practice heatmaps, volcano plots and gene annotations, then explain your reading step by step and check your reasoning; it teaches the skill rather than sitting the exam for you, and USyd academic-integrity rules apply.

Study strategy

Exam move

Because at least one data-interpretation item is expected on the final, drill the reading rules until they are reflexive: heatmap red/blue on a Row Z-score, volcano x-axis = fold-change direction, y-axis = significance, and always read the legend first. Practise annotating a gene sequence (promoter, exons/introns, strand) and interpreting a variant from ClinVar/COSMIC plus conservation. Ask Sia to generate fresh figures and check your reading; keep this skill warm right up to the exam and confirm the exam format on Canvas.

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