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GENOMICS AND
BIOINFORMATICS
• Agenome is an organism's complete set of DNA,
including all ofits genes.
• Genes carry the information for making all of the
proteins required by the body for growth and
maintenance.
• The genome also encodes r-RNA and t-RNA
which areinvolved in protein synthesis.
• Genomics is a discipline in genetics that applies recombinant
DNA, DNAsequencing methods, and bioinformatics to sequence,
assemble and analyze the function and structure of genomes
(the complete set of DNAwithin asinglecell of anorganism).
• Thebranch of molecular biology concerned with the structure,
function, evolution andmapping ofgenomes.
• It involves the study of all genes at the DNA, mRNA and
proteome level as well as the cellular or tissue level.
• The term genomics was first coined in 1986 by
Tom Roderick.
Genomics is the study of the genomes (i.e. the entire hereditary information)
of organisms and includes:
 Determining the entire DNA sequence.
 Fine-scale genetic mapping.
 Studies of intragenomic phenomena.
Used to determine an ideal genotype instead of just a few genes.
 The study of whole genomes of populations of individuals can reveal the
genetic basis of different responses to both biotic and abiotic stresses.
 Requires a large amount of information per individual.
 Expensive in agriculture where many individuals need to be analyzed.
 Genomics is a concept that was first developed by Frederick
Sanger in early 1970s, who first sequenced the complete
genome of a virus and of a mitochondrion.
 In 1972, Walter Gilbert and his research group became the first
to sequence a gene. They sequenced the gene of Bacteriophage
MS2.
 They shared half of the 1980 Nobel prize in chemistry for
independently developing methods for the sequencing DNA.
 In 1995, Hamilton O. Smith and his team became the first to
sequence a genome of a free living organism – that of
Haemophilus influenzae.
GENETICS
 Genetics is the study of
heredity.
 “Gene" refers to a specific
sequence of DNA on a single
chromosome.
 Genetics involves the study
of functions and composition
of the single gene.
GENOMICS
 Genomics is the study of the
entirety of an organism’s genes.
 “Genome” refers to an organism's
entire genetic makeup.
 Genomics addresses all genes
and their inter relationships.
1. Structural genomics:
 Construction of genomic sequence data
 Gene discovery and localization
 Construction of gene maps
 Structural genomics seeks to describe the 3-dimensional structure of every protein
encoded by a given genome.
2. Functional genomics:
 Biological function of genes, Regulation, Products and Plant development studies.
 Functional genomics focuses on the dynamic aspects such as gene transcription ,
translation and protein–protein interactions.
3. Comparative genomics:
 Compares gene sequences to elucidate functional or evolutionary relationships
 Sequence the entire genome by cutting it into small, manageable pieces
(fragments).
 Assemble the entire genome from the pieces.
 Understand how gene expression takes place.
Why to sequence the genomes..?
 Sequencing genomes helps understand how the genome as a whole and how
the genes work together to direct the growth, development and maintenance
of an entire organism.
 The genome sequence will represent a valuable shortcut, thus helping to find
genes much more easily and quickly.
 After sequencing, need to find the genes, using computer algorithms – this step
is called ‘annotation’.
Annotation identifies :
 Protein-coding genes
 Initiation sequences
 Regulatory sequences
 Termination sequences
 Non protein-coding sequences
 After genome sequencing is annotated, functions need to be assigned to all
genes in the sequence.
 Some of the identified genes might have functions assigned already via
classical methods of mutagenesis and linkage mapping.
 Some may not have assigned functions – use homology searches.
 Computer-based comparisons of the sequence under study with known
sequences from other organisms.
• Genomicdatarefersto the genomeandDNAdataof anorganism.
123
Unlimited possibilities for crop improvement,
Especially in combination with genetic engineering:
 Improved crop productivity
 Increased nutritional quality and quantity
 Tolerance to abiotic stresses – drought, low quality soils (acidity, low
nutrient content)
 Tolerance to biotic stresses - pests and diseases
Other
 It can be used in the field of medicine for early detection of genetic diseases
and its diagnosis and treatment.
 Tostudy evolution through mutation lineages.
 In forensic science.
BIOINFORMATICS
 It is an interdisciplinary field that develops methods and software tools for
understanding biological data as an interdisciplinary field of science.
 Bioinformatics combines computer science, statistics, mathematics and
engineering to analyze and interpret biological data.
It dealswith
 Collection
 Organization
 Analysis
 Manipulation
 Sharingof BiologicalData
But at the endof the dayit isusedto solvethe biologicalproblems on molecular level.
Molecular
Structure
Phenotype
(Symptoms)
Biochemical
Function
Genetic
Information
MVHLTPEEKT
AVNALWGKVN
VDAVGGEALG
RLLVVYPWTQ
RFFESFGDLS
SPDAVMGNPK
VKAHGKKVLG
AFSDGLAHLD
NLKGTFSQLS
ELHCDKLHVD
PENFRLLGNV
LVCVLARNFG
KEFTPQMQAA
YQKVVAGVAN
ALAHKYH
 The need for bioinformatics has arisen from the
recent explosion of publicly available genomic
information, such as resulting from the Human
Genome Project.
 Gain a better understanding of gene analysis,
taxonomy and evolution.
 To work efficiently on the rational drug designs
and reduce the time taken for the development
of drug manually.
 To uncover the wealth of Biological information
hidden in the mass of sequence, structure, literature
and biological data.
 It is being used now and in the fore seeable future in
the areas of molecular medicine.
 It has environmental benefits in identifying waste
and clean up bacteria.
 In agriculture, it can be used to produce high yield
low maintenance crops.
 Molecular Medicine
 Gene Therapy
 Drug Development
 Microbial genome applications
 Crop Improvement
 Forensic Analysis of Microbes
 Biotechnology
 Evolutionary Studies
 Bio-Weapon Creation
Organisation of knowledge
(Sequences, structures
and functional data)
HOMOLOGY SEARCHES
B
C
A
 In Experimental Molecular Biology.
 In Genetics and Genomics.
 In generating Biological Data.
 Analysis of gene and protein expression.
 Comparison of genomic data.
 Understanding of evolutionary aspect of Evolution.
 Understanding biological pathways and networks in
System Biology.
 In Simulation & Modeling of DNA, RNA and Protein.
 Bioinformatics, being an interface between modern biology and informatics.
It involves discovery, development and implementation of computational
algorithms and software tools that facilitate an understanding of various biological
processeswith the goal to serve primarily agriculture andhealthcare sectors.
THE CHALLENGE
In 1995, the number of genes in the database started to exceed the number of
papers on molecular biology and genetics in the literature!
• DNAsequencewhich determines protein sequence.
• Protein sequencewhich determines proteinstructure.
• Protein structure which determines proteinfunction
Huge data is generated from the above written three
sources and now there is need of intelligent storage and
analysis of this data so that something useful can be
taken out of this data. Therefore, automated computer
tools must be developed to allow the extraction of
meaningful biologicalinformation.
• Biological databases are libraries of life
sciences information, collected from scientific
experiments, published literature, high-
throughput experiment technology, and
computational analysis.
BIOLOGICAL DATABASE INFORMATION THEYCONTAIN
Bibliographic database Literature
Taxonomic Database Classification
Nucleic acid database DNAInformation
Genomic Database Genelevel Information
Protein Database Protein Information
 Three databanks exchange data on a daily basis.
 Data can be submitted and accessed at either location.
 DNA Data Bank of Japan (National Institute ofGenetics)
 EMBL(European BioinformaticsInstitute)
 GenBank (National Center for BiotechnologyInformation)
 UniProt Universal Pesource (EBI,SwissInstitute of Bionformatics)
 Swiss-Prot Protein Knowledgebase (Swiss Institute of Bionformatics)
 National Center for Biotechnology Information(NCBI) NIM,USA
GENOMICS AND BIOINFORMATICS

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GENOMICS AND BIOINFORMATICS

  • 2. • Agenome is an organism's complete set of DNA, including all ofits genes. • Genes carry the information for making all of the proteins required by the body for growth and maintenance. • The genome also encodes r-RNA and t-RNA which areinvolved in protein synthesis.
  • 3. • Genomics is a discipline in genetics that applies recombinant DNA, DNAsequencing methods, and bioinformatics to sequence, assemble and analyze the function and structure of genomes (the complete set of DNAwithin asinglecell of anorganism). • Thebranch of molecular biology concerned with the structure, function, evolution andmapping ofgenomes. • It involves the study of all genes at the DNA, mRNA and proteome level as well as the cellular or tissue level. • The term genomics was first coined in 1986 by Tom Roderick.
  • 4. Genomics is the study of the genomes (i.e. the entire hereditary information) of organisms and includes:  Determining the entire DNA sequence.  Fine-scale genetic mapping.  Studies of intragenomic phenomena. Used to determine an ideal genotype instead of just a few genes.  The study of whole genomes of populations of individuals can reveal the genetic basis of different responses to both biotic and abiotic stresses.  Requires a large amount of information per individual.  Expensive in agriculture where many individuals need to be analyzed.
  • 5.  Genomics is a concept that was first developed by Frederick Sanger in early 1970s, who first sequenced the complete genome of a virus and of a mitochondrion.  In 1972, Walter Gilbert and his research group became the first to sequence a gene. They sequenced the gene of Bacteriophage MS2.  They shared half of the 1980 Nobel prize in chemistry for independently developing methods for the sequencing DNA.  In 1995, Hamilton O. Smith and his team became the first to sequence a genome of a free living organism – that of Haemophilus influenzae.
  • 6. GENETICS  Genetics is the study of heredity.  “Gene" refers to a specific sequence of DNA on a single chromosome.  Genetics involves the study of functions and composition of the single gene. GENOMICS  Genomics is the study of the entirety of an organism’s genes.  “Genome” refers to an organism's entire genetic makeup.  Genomics addresses all genes and their inter relationships.
  • 7. 1. Structural genomics:  Construction of genomic sequence data  Gene discovery and localization  Construction of gene maps  Structural genomics seeks to describe the 3-dimensional structure of every protein encoded by a given genome. 2. Functional genomics:  Biological function of genes, Regulation, Products and Plant development studies.  Functional genomics focuses on the dynamic aspects such as gene transcription , translation and protein–protein interactions. 3. Comparative genomics:  Compares gene sequences to elucidate functional or evolutionary relationships
  • 8.  Sequence the entire genome by cutting it into small, manageable pieces (fragments).  Assemble the entire genome from the pieces.  Understand how gene expression takes place. Why to sequence the genomes..?  Sequencing genomes helps understand how the genome as a whole and how the genes work together to direct the growth, development and maintenance of an entire organism.  The genome sequence will represent a valuable shortcut, thus helping to find genes much more easily and quickly.
  • 9.
  • 10.  After sequencing, need to find the genes, using computer algorithms – this step is called ‘annotation’. Annotation identifies :  Protein-coding genes  Initiation sequences  Regulatory sequences  Termination sequences  Non protein-coding sequences
  • 11.  After genome sequencing is annotated, functions need to be assigned to all genes in the sequence.  Some of the identified genes might have functions assigned already via classical methods of mutagenesis and linkage mapping.  Some may not have assigned functions – use homology searches.  Computer-based comparisons of the sequence under study with known sequences from other organisms.
  • 12. • Genomicdatarefersto the genomeandDNAdataof anorganism.
  • 13. 123
  • 14. Unlimited possibilities for crop improvement, Especially in combination with genetic engineering:  Improved crop productivity  Increased nutritional quality and quantity  Tolerance to abiotic stresses – drought, low quality soils (acidity, low nutrient content)  Tolerance to biotic stresses - pests and diseases Other  It can be used in the field of medicine for early detection of genetic diseases and its diagnosis and treatment.  Tostudy evolution through mutation lineages.  In forensic science.
  • 15. BIOINFORMATICS  It is an interdisciplinary field that develops methods and software tools for understanding biological data as an interdisciplinary field of science.  Bioinformatics combines computer science, statistics, mathematics and engineering to analyze and interpret biological data. It dealswith  Collection  Organization  Analysis  Manipulation  Sharingof BiologicalData But at the endof the dayit isusedto solvethe biologicalproblems on molecular level.
  • 16.
  • 18.  The need for bioinformatics has arisen from the recent explosion of publicly available genomic information, such as resulting from the Human Genome Project.  Gain a better understanding of gene analysis, taxonomy and evolution.  To work efficiently on the rational drug designs and reduce the time taken for the development of drug manually.
  • 19.  To uncover the wealth of Biological information hidden in the mass of sequence, structure, literature and biological data.  It is being used now and in the fore seeable future in the areas of molecular medicine.  It has environmental benefits in identifying waste and clean up bacteria.  In agriculture, it can be used to produce high yield low maintenance crops.
  • 20.  Molecular Medicine  Gene Therapy  Drug Development  Microbial genome applications  Crop Improvement  Forensic Analysis of Microbes  Biotechnology  Evolutionary Studies  Bio-Weapon Creation
  • 21. Organisation of knowledge (Sequences, structures and functional data) HOMOLOGY SEARCHES B C A
  • 22.  In Experimental Molecular Biology.  In Genetics and Genomics.  In generating Biological Data.  Analysis of gene and protein expression.  Comparison of genomic data.  Understanding of evolutionary aspect of Evolution.  Understanding biological pathways and networks in System Biology.  In Simulation & Modeling of DNA, RNA and Protein.
  • 23.  Bioinformatics, being an interface between modern biology and informatics. It involves discovery, development and implementation of computational algorithms and software tools that facilitate an understanding of various biological processeswith the goal to serve primarily agriculture andhealthcare sectors.
  • 24. THE CHALLENGE In 1995, the number of genes in the database started to exceed the number of papers on molecular biology and genetics in the literature!
  • 25. • DNAsequencewhich determines protein sequence. • Protein sequencewhich determines proteinstructure. • Protein structure which determines proteinfunction Huge data is generated from the above written three sources and now there is need of intelligent storage and analysis of this data so that something useful can be taken out of this data. Therefore, automated computer tools must be developed to allow the extraction of meaningful biologicalinformation.
  • 26. • Biological databases are libraries of life sciences information, collected from scientific experiments, published literature, high- throughput experiment technology, and computational analysis. BIOLOGICAL DATABASE INFORMATION THEYCONTAIN Bibliographic database Literature Taxonomic Database Classification Nucleic acid database DNAInformation Genomic Database Genelevel Information Protein Database Protein Information
  • 27.  Three databanks exchange data on a daily basis.  Data can be submitted and accessed at either location.  DNA Data Bank of Japan (National Institute ofGenetics)  EMBL(European BioinformaticsInstitute)  GenBank (National Center for BiotechnologyInformation)  UniProt Universal Pesource (EBI,SwissInstitute of Bionformatics)  Swiss-Prot Protein Knowledgebase (Swiss Institute of Bionformatics)  National Center for Biotechnology Information(NCBI) NIM,USA