1. A brief Introduction to Bioinformatics Y. SINGH NELSON R. MANDELA SCHOOL OF MEDICINE DEPARTMENT OF TELEHEALTH SINGHY@UKZN.AC.ZA Content licensed under Creative Commons Attribution-Share Alike 3.0 Unported

2. Learning Objectives What is Bioinformatics Why is it important Examples of Bioinformatics application What is Sequencing Uses of Sequencing

3. Building Blocks of DNA Bases are the building blocks of DNA DNA uses four different bases: Adenine, Guanine, Cytosine & Thymine Connected by 2’-deoxy-ribose- phosphate backbone

4. DNA Please watch Video One

5. Information in DNA is Transferred to RNA & into Proteins DNA (ACGT on deoxyribose backbone) RNA (ACGU on ribose backbone) Proteins (amino acids on peptide backbone)  

6. Information in RNA Encodes Proteins Triplets of RNA nucleotides encode 20 amino acids 8 essential amino acids

7. DNA Mutates Mutations in DNA (changes in bases) can  changes in amino acids can  changes in proteins Mutations can be: Inherited: sickle cell disease, cystic fibrosis, susceptibility to some cancers (BRCA: breast cancer) Acquired: some birth defects, leukemia, HIV resistance

8. Definition Bioinformatics :  applied mathematics,  informatics,  statistics,  computer science,  artificial intelligence,  chemistry, biochemistry etc to solve biological problems usually on the molecular level

9. What can Bioinformatics do se quence alignment, gene finding, genome assembly, protein structure alignment, protein structure prediction, predict products of gene expression protein-protein interactions, the modeling of evolution.

10. What can Bioinformatics do sequence alignment, gene finding, genome assembly, protein structure alignment, protein structure prediction, predict products of gene expression protein-protein interactions, the modeling of evolution.

11. Sequence Alignment Compare genes within a species Search genes BLAST

12. BIOAFICA: http://www.bioafrica.net/rega- genotype/html/subtypinghiv.html http://www.bioafrica.net/rega- genotype/html/subtypinghiv.html STANFORD HIV-DB: http://hivdb.stanford.edu/ Demonstration: Video Two

13. FINDING SIMILARITIES HTTP://WWW.EBI.AC.UK/TOOLS/CLU STALW2/INDEX.HTML HTTP://WWW.NCBI.NLM.NIH.GOV/SI TES/ENTREZ?DB=PROTEIN&CMD=SEA RCH

14. Implications for clinical informatics Sequence information in medical records New diagnostic and prognostic information sources Ethical considerations

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