A brief Introduction to Bioinformatics

Y. SINGH

NELSON R. MANDELA SCHOOL OF MEDICINEDEPARTMENT OF TELEHEALTH

SINGHY@UKZN.AC.ZA

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Learning Objectives

What is BioinformaticsWhy is it importantExamples of Bioinformatics applicationWhat is SequencingUses of Sequencing

Building Blocks of DNABases are the building blocks of DNADNA uses four different bases:

Adenine, Guanine, Cytosine & ThymineConnected 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

sequence 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 genesBLAST

BIOAFICA:

http://www.bioafrica.net/rega-genotype/html/subtypinghiv.html

STANFORD HIV-DB: http://hivdb.stanford.edu/

Demonstration: Video Two

FINDING SIMILARITIESHTTP://WWW.EBI.AC.UK/TOOLS/CLUSTALW2/INDEX.HTML

HTTP://WWW.NCBI.NLM.NIH.GOV/SITES/ENTREZ?DB=PROTEIN&CMD=SEARCH

Implications for clinical informatics

Sequence information in medical recordsNew diagnostic and prognostic information

sourcesEthical considerations

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Thank You