Sophia S. Liau

Liver Hepatocellular Carcinoma Analysis

Fall 2025 Bioinformatics BMEG 310

This team project investigated mutation, clinical and RNA-sequencing patterns in liver hepatocellular carcinoma using data from The Cancer Genome Atlas. We developed an R-based analysis pipeline to connect genomic variation and gene-expression structure with patient characteristics, cancer stage and multiple survival outcomes.

Analysis Workflow

Flowchart of the liver hepatocellular carcinoma analysis workflow

Mutation & Clinical Analysis

We standardized TCGA patient identifiers, matched mutation records to clinical data and filtered for non-synonymous variants affecting coding regions. From these records, we constructed a binary gene-by-patient mutation matrix, calculated tumor mutation burden and explored relationships with age, sex, race and grouped cancer stage. Mutation-based patient clusters were evaluated across overall, disease-specific, progression-free and disease-free survival using Kaplan–Meier curves and Cox proportional-hazards models.

Expression & Pathway Analysis

RNA-sequencing counts were matched to clinical records, filtered and normalized with DESeq2 before variance-stabilizing transformation. Highly variable genes supported PCA and hierarchical clustering, while differential-expression comparisons characterized expression-defined patient groups. We also used Hallmark gene-set enrichment analysis to investigate the biological pathways represented by cluster-level expression differences.

Tools & Methods

R, R Markdown, TCGA clinical and genomic datasets, DESeq2, survival, survminer, ggplot2, dplyr, hierarchical clustering, PCA, differential expression, gene-set enrichment, Kaplan–Meier analysis and multivariable Cox regression.

Full Analysis Report

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