This document discusses the origin, history, and applications of bioinformatics. It begins by defining bioinformatics as the use of computation to extract knowledge from biological data through collection, storage, manipulation and modeling of data for analysis and prediction. The history section notes that the term was coined in the 1970s but applications expanded in the 1990s with increased molecular biology data. It then outlines several key applications of bioinformatics like functional genomics, structural genomics, comparative genomics, and medical informatics.

1. Origin, History and
Application of
bioinformatics
SWORNA KUMARI.C.,Ph.D.,
Hexacara Lifesciences Pvt ltd

2. Prelude
 What is Bioinformatics
 Broad coverage of Bioinformatics
 History of Bioinformatics
 Role of Bioinformatics
 Components of Bioinformatics
 Importance of Bioinformatics
 Uses of Bioinformatics
 Application of Bioinformatics

4. What is bioinformatics?
 Bioinformatics is a field of study that uses computation to extract knowledge
from biological data.
 It includes the collection, storage, retrieval, manipulation and modelling of data
for analysis, visualization or prediction through the development of algorithms
and software.
 The application of statistics and computer science to the field of molecular
biology
 Uses computers to store, manage, manipulate, analyze biological data
 Unravel biological meaning and develop biological and evolutionary insights
 Drug discovery and development; personalized medicine

5. Broad Coverage of Bioinformatics:
 Functional genomics:
 Identification of genes and their respective functions.
 Structural genomics:
 Predictions related to functions of proteins.
 Comparative genomics:
 For understanding the genomes of different species of
organisms.
 DNA microarrays:
 These are designed to measure the levels of gene
expression in different tissues, various stages of
development and in different diseases.
 Medical informatics:
 This involves the management of biomedical data with
special referee to biomolecules, in vitro assays and
clinical trials.
Functional
Genomics
Structural
Genomics
Comparative
Genomics
DNA
Microarrays
Medical
Informatics

6. History of Bioinformatics
 The term bioinformatics was first introduced in 1990s.
 Originally, it dealt with the management and analysis of the data pertaining to
DNA, RNA and protein sequences.
 The term “bioinformatics” coined by Paulien Hogeweg . Paulien Hogeweg and
Ben Hesper used the definition of bioinformatics as a counterpart to
biochemistry (the study of chemical processes in living systems) in 1970.
 When protein sequences became available after Frederick Sanger discovered
the insulin sequence in the early 1950s, computers became indispensable in
molecular biology. Manual comparisons of several sequences proved to be
impractical. Margaret Oakley Dayhoff was a leader in this area.

11. Role of Bioinformatics
To mention that, processing the biological information is for inventing the
corresponding data that may also include the below software programs.
Algorithms
Graph
theory
Artificial
intelligence
Data
mining
Soft
computing
Computer
simulation
Image
processing

12. Bioinformatics took part
Systems
biology
• mathematical designing and analysis and
visualization of large sets of biodata
Structur
al
analysis
• modeling that determines the effects of
physical loads on physical structures
Molecula
r
modelin
g
• the designing and defining of molecular
structures by way of computational chemistry
Pathway
analysis
• a software description that defines related
proteins in the metabolism of the body.

13. Computation
al biology
• the uses of data-based solutions to the issues in
bioinformatics
Genetics
• it is the study of heredity and the gene diversity of
inherited characteristics/features
Genomic
s
• it is the branch of biomolecular biology that works in the
area of structure, function, evolution, and mapping of
genomes
Proteomic
s
• the study of proteomes and their features

14. Metagenomics
• the study of genetic from the environment
and living beings and samples
Transcriptomics
• this the study of the complete RNA and
DNA transcriptase
Phylogenetics
• the study of the relationships between
groups of animals and humans
Metabolomics
• the study of the biochemistry of metabolism
and metabolites in living beings

15. Components of Bioinformatics:
 Bioinformatics comprises three components:
1. Creation of databases:
 This involves the organizing, storage and management the biological data sets.
The databases are accessible to researchers to know the existing information
and submit new entries, e.g. protein sequence data bank for molecular
structure. Databases will be of no use until analyzed.
2. Development of algorithms and statistics:
 This involves the development of tools and resources to determine the
relationship among the members of large data sets e.g. comparison of protein
sequence data with the already existing protein sequences.
3. Analysis of data and interpretation:
 The appropriate use of components 1 and 2 (given above) to analyze the data
and interpret the results in a biologically meaningful manner. This includes
DNA, RNA and protein sequences, protein structure, gene expression profiles
and biochemical pathways.

16. Scope of bioinformatics
 Bioinformatics is an interdisciplinary science that focuses on developing
methods and software tools for analyzing biological data.
 Over the last 30–40 years, breakthroughs in molecular biology and computer
science have combined to establish the area of bioinformatics.
 Bioinformatics has become an important part of various branches of biology. In
experimental molecular biology, techniques such as image and signal
processing allow the extraction of relevant results from enormous amounts of
raw data.
 Bioinformatics is an interdisciplinary discipline of research that analyses and
interprets biological data by combining biology, computer science, information
engineering, mathematics, and statistics.
 Biological databases, sequence alignment, gene and promoter prediction,
molecular phylogenetics, structural, genomics, and proteomics are all important
aspects of bioinformatics.

17. Uses of Bioinformatics

18. Uses in Biotechnology
 A selected list of applications
 Sequence mapping of biomolecules (DNA, RNA, proteins).
 Identification of nucleotide sequences of functional genes.
 Finding of sites that can be cut by restriction enzymes.
 Designing of primer sequence for polymerase chain reaction.
 Prediction of functional gene products.
 To trace the evolutionary trees of genes.
 For the prediction of 3-dimensional structure of proteins.
 Molecular modelling of biomolecules.
 Designing of drugs for medical treatment.
 Handling of vast biological data which otherwise is not possible.
 Development of models for the functioning various cells, tissues and organs.

20. Bioinformatics is being used in following
fields
 Microbial genome
applications
 Molecular medicine
 Personalised
medicine
 Preventative
medicine
 Gene therapy
 Drug development
 Antibiotic
resistance
 Evolutionary
studies
 Waste cleanup
 Biotechnology
 Climate change
Studies
 Alternative energy
sources
 Crop improvement
 Forensic analysis
 Bio-weapon
creation
 Insect resistance
 Improve nutritional
quality
 Development of
Drought resistant
varieties
 Veterinary Science

21. Bioinformatics Applications- Molecular
medicine
 Can able to find 3000-4000 hereditary disease including Cystic Fibrosis,
Huntingtons disease, cancers, heart disease, diabetes etc
 genes directly associated with different diseases to understand the molecular
basis of these diseases more clearly.
 Leads to the knowledge of molecular mechanisms of disease will enable better
treatments, cures and even preventative tests to be developed.

22. Personalized medicine
 Clinical medicine will become more personalized with the development of the
field of pharmacogenomics.
 Can find how an individual's genetic inheritance affects the body's response to
drugs.
 Can show adverse affects to a drug due to sequence variants in their DNA.
 able to analyze a patient's genetic profile and prescribe the best available drug
therapy and dosage from the beginning.

23. Gene therapy
 Gene Therapy is a popular part of biology in which genetic components
are inserted into sick cells in order to treat, cure, and prevent diseases.
 Bioinformatics is used in Gene Therapy to analyze protein targets,
identify cancer kinds, evaluate data, and assess MicroRNA, among
other things.

24. Drug development
 One of the most important uses of informatics is drug discovery.
 Computational biology, a key component of bioinformatics, assists scientists in
understanding disease mechanisms and validating new, cost-effective
medications.
 With an improved understanding of disease mechanisms and using
computational tools to identify and validate new drug targets, more specific
medicines that act on the cause.
 These highly specific drugs promise to have fewer side effects than many of
today's medicines.

25. Microbial genome applications
 Identifying variety of microbial properties in the baking, brewing and food
industries.
 complete genome sequences and their potential to provide a greater insight into
the microbial world, implications for environment, health, energy and industrial
applications.
 Sequencing the genomes of bacteria useful in energy production,
environmental cleanup, industrial processing and toxic waste reduction.
 By studying the genetic material of these organisms, scientists can begin to
understand these microbes at a very fundamental level and isolate the genes
that give them their unique abilities to survive under extreme conditions.

26. Waste cleanup
 Deinococcus radiodurans is known as the world's toughest bacteria and it is the
most radiation resistant organism known.
 Scientists are interested in this organism because of its potential usefulness in
cleaning up waste sites that contain radiation and toxic chemicals.
 The major goal is to detect and assess the DNA sequencing of bacteria and
microorganisms in order to employ them for sewage cleaning, radioactive waste
removal, oil spill clean-up, and other scope and application of bioinformatics.

27. Forensic analysis
 Scientists used their genomic tools to help distinguish between the strain
of Bacillus anthracis that was used in the summer of 2001 terrorist attack in
Florida with that of closely related anthrax strains.
 Forensic science includes the study regarding identification and relatedness of
individuals. It is inherently interdisciplinary with bioinformatics as both are
dependent on computer science and statistics.
 This field is based on the molecular data and many databases are being
developed to store the DNA profiles of known offenders.
 This field is being pushed due to technological and statistical advances in
microarray, Bayesian networks, machine learning algorithms, TFT biosensors
and others. This provides the effective way of evidence organization and
inference

28. Evolutionary studies
 The sequencing of genomes from all three domains of life, eukaryota, bacteria
and archaea means that evolutionary studies can be performed in a quest to
determine the tree of life and the last universal common ancestor.

29. Insect resistance
• Genes from Bacillus thuringiensis that can control a number of serious pests
have been successfully transferred to cotton, maize and potatoes.
• This new ability of the plants to resist insect attack means that the amount of
insecticides being used can be reduced and hence the nutritional quality of the
crops is increased.
• Progress has been made in developing cereal varieties that have a greater
tolerance for soil alkalinity, free aluminium and iron toxicities.

30. Climate change Studies
 Increasing levels of carbon dioxide emission, mainly through the expanding use
of fossil fuels for energy, are thought to contribute to global climate change.
 Recently, the DOE (Department of Energy, USA) launched a program to
decrease atmospheric carbon dioxide levels.
 One method of doing so is to study the genomes of microbes that use carbon
dioxide as their sole carbon source.

31. Veterinary Medicine
 Scope and application of bioinformatics in this discipline focuses on sequencing
studies involving animals such as cows, pigs, and sheep.
 This has resulted in an increase in overall production as well as improved
livestock health.
 Bioinformatics has also aided scientists in the development of new technologies
for identifying vaccination targets.
 Sequencing projects of many farm animals including cows, pigs and sheep are
now well under way in the hope that a better understanding of the biology of
these organisms will have huge impacts for improving the production and health
of livestock and ultimately have benefits for human nutrition.

32. Crop improvement
• Scientists have recently succeeded in transferring genes into rice to increase
levels of Vitamin A, iron and other micronutrients. This work could have a
profound impact in reducing occurrences of blindness and anaemia caused by
deficiencies in Vitamin A and iron respectively.
• Scientists have inserted a gene from yeast into the tomato, and the result is a
plant whose fruit stays longer on the vine and has an extended shelf life.
• At present the complete genomes of Arabidopsis thaliana (water cress) and
Oryza sativa (rice) are available.

33. summary
• Largely used in gene therapy.
• Microbial analysis and computing.
• Understanding protein structure and modeling.
• Storage and retrieval of biotechnological data.
• In the finding of new drugs.
• In agriculture in understanding crop patterns, pest control, and crop
management.

34. Conclusion
 With the confluence of biology and computer science, the computer
applications of molecular biology are drawing a greater attention among the life
science researchers and scientists these days.
 As it becomes ever growing computational requirements of a host of exciting
and needy biological problems, the synergy between modern biology and
computer science is to blossom in the days to come.
 Thus the research scope for all the mathematical techniques and algorithms
coupled with software programming languages, software development and
deployment tools are to get a real boost.