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A brief Introduction to
Bioinformatics
Y. SINGH
NELSON R. MANDELA SCHOOL OF MEDICINE
DEPARTMENT OF TELEHEALTH
[email protected]
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-ribosephosphate 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 genes
 BLAST
Demonstration: Video Two
BIOAFICA:
h t t p : / / w w w. b i o a f r i c a . n e t / r e g a g e n o t y p e / h t m l / s u b t y p i n g h i v. h t m l
STANFORD HIV-DB: http://hivdb.stanford.edu/
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
Implications for clinical
informatics
 Sequence information in medical records
 New diagnostic and prognostic information
sources
 Ethical considerations
Thank You
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