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

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

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

DNA Please watch Video One

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)  

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

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

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

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.

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.

Sequence Alignment Compare genes within a species Search genes BLAST

BIOAFICA: genotype/html/subtypinghiv.html genotype/html/subtypinghiv.html STANFORD HIV-DB: Demonstration: Video Two

FINDING SIMILARITIES STALW2/INDEX.HTML TES/ENTREZ?DB=PROTEIN&CMD=SEA RCH

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

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