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1. What is Bioinformatics?
Mathematics and
Statistics
Biology
Computer
Science

2. A working definition is that of House of
Representatives Standing Committee on Primary
Industries and Regional Services Inquiry :-
"All aspects of gathering, storing, handling,
analyzing, interpreting and spreading vast amounts
of biological information in databases. The
information involved includes gene sequences,
biological activity/function, pharmacological activity,
biological structure, molecular structure, protein-
protein interactions, and gene expression.
Bioinformatics uses powerful computers and
statistical techniques to accomplish research
objectives, for example, to discover a new
pharmaceutical or herbicide."
What is bioinformatics?

3. • Molecular biology and genetics
• Phylogenetic and evolutionary sciences
• Different aspects of biotechnology including pharmaceutical
and microbiological industries
• Medicine
• Agriculture
•Eco-management
Areas of current and future development of bioinformatics

4. • Exponential growth of investments
• Constant deficit of trained professionals
• Diversification of bioinformatics applications
• Need in different types of bioinformaticians
Why bioinformatics?

5. Central Dogma of Molecular Biology
GENOTYPE (i.e. Aa)
PHENOTYPE (pink)
GENE (DNA)
MESSENGER (RNA)
PROTEIN
TRAIT
ATGCAAGTCCACTGTATTCCA
UACGUUCAGGUGACAUAAGGG
transcription reverse
tr
translation
replication

6. DNA
Symbol Meaning Explanation
G G Guanine
A A Adenine
T T Thymine
C C Cytosine
R A or G puRine
Y C or T pYrimidine
N A, C, G or T Any base
Double helix
5’
3’
3’
5’
A C G T C A T G
T G C A G T A C
RNA
5’ 3’
A C G U C A U G
template
U U Uracil

7. Genetic Code
1. Amino acids are coded by codons – triplets of
nucleotides, e.g. |ACG|TAT|….
2. There are 43 = 64 codons for ~20 amino acids, the
code is degenerate
3. Codons do not overlap
4. Deletions or insertions of one or few nucleotides (not
equal to 3 x N) usually destroy a message by shifting
a reading frame
5. Three specific codons (stop codons) do not code any
amino acid and are always located at the very end of
the protein coding part of a gene

8. The genetic code

9. The 20 amino acids common in living
organisms

10. PROTEINS
Green Fluorecent Protein (GFP)
1 mcgkkfelki dnvrfvghpt llqpphtiqa sktdpspkre lptmilfsvv falranadas
61 viscmhnlsr riaialqhee rrcqyltrea klmlamqdev ttiidsdgsp qspfrqilpk
121 cklardlkea ydslcttgvv rlhinnwlev sfclphkihr vggkhiplea lerslkairp

11. Genomic Hierarchy in Eukaryotes
Genome nuclear (1)
Chromosomes (23x2)
DNA molecules (23x2)
Genes (~30,000); only a small fraction of genome
Nucleotides (~3x109)

12. Eukaryotic genes are complex
Promoter Exon 1 Exon 2 Exon 3 Exon 4
Start codon Intron 1 Intron 2 Intron 3 Stop codon
Protein coding regions