Talks & courses · Class
Bioinformatics in Human Health
A two-part introduction to bioinformatics for students with no prior background in the field: how biological information is encoded, how it becomes data, and how public databases and simple tools can be used to ask questions about human health, from a single DNA sequence to cancer data from thousands of patients.
The class
João Muzzi, PhD, gave this class in June 2023, in Portuguese with slides in English, at the invitation of the International School of Curitiba. The two parts were recorded as video lessons and are published here in full. They assume high-school biology and no programming.
Part I builds the biological foundation: what bioinformatics is, how traits are inherited, how DNA is read into RNA and protein, what a mutation is and why some matter and others do not, and why the amount of biological information in a single person already requires computers to handle. Part II is hands-on: it shows where biological data are kept, runs a sequence search live, and walks through how cancer data from public repositories are explored, from a portal of patient cohorts to differential expression and protein interaction networks.
Part I: from Mendel to the central dogma
- What is bioinformatics: where biology, statistics and computer science meet.
- Mendelian genetics, genotype and phenotype, and probabilities in inheritance.
- The central dogma of molecular biology: DNA, RNA and protein; transcription and translation; the genetic code.
- Mutations: silent, nonsense and missense; what causes them.
- Biological information as data: genome, transcriptome and proteome, and what they cost to store and process.
Part II: public data, BLAST and cancer genomics
- Public repositories of biological data, with the Gene Expression Omnibus (GEO) as the example.
- BLAST, live: a nucleotide sequence is submitted to the NCBI tool and the result is read step by step.
- Cancer data portals: the NCI Genomic Data Commons and cBioPortal, and what a cohort of thousands of patients looks like.
- Differential expression: which genes are up- or down-regulated between phenotypes, read from a volcano plot.
- Protein–protein interaction networks and why they matter for finding treatment targets.
Tools shown
- NCBI BLAST (Basic Local Alignment Search Tool). blast.ncbi.nlm.nih.gov
- Gene Expression Omnibus (GEO), NCBI. ncbi.nlm.nih.gov/geo
- NCI Genomic Data Commons Data Portal. portal.gdc.cancer.gov
- cBioPortal for Cancer Genomics. cbioportal.org