GENOMICS

• Genomics is an area within genetics that concerns the sequencing and analysis of an organism’s genome.

• The genome is the entire DNA content that is present within one cell of an organism.

• Genomics is a discipline in genetics that applies recombinant DNA, DNA sequencing methods, and bioinformatics to sequence, assemble, and analyze the function and structure of genomes.

• Genomics focuses on the development and application of cutting-edge methods, addressing fundamental questions with potential interest to a wide audience.

• The fields of molecular biology and genetics

are mainly concerned with the study of the role and function of single genes, a major topic in today’s biomedical research.

• Genomics including genome projects, genome sequencing, and genomic technologies and novel strategies.

• Genomics including genome projects, genome sequencing, and genomic technologies and novel strategies

• The promise of genomics is huge. It could someday help us maximize personal health and discover the best medical care for any condition.

Role of bioinformatics in

genomics…….

• Genomics is a branch of genetics that studies large scale changes in genomes of organisms.

• Bioinformatics is a hybrid field that brings together the knowledge of biology and the knowledge of information science, which is a sub-field of computer science.

• Genomics and its subfield of transcriptomics, which studies genome-wide changes in the RNA that is transcribed from DNA, studies many genes are once.

• Genomics may also involve reading and aligning very long sequences of DNA or RNA. Analysing and interpreting such large-scale, complex data requires the help of computers. The human mind, superb as it is, is incapable of handling this much information.

• Bioinformatics is a hybrid field that brings together the knowledge of biology and the knowledge of information science, which is a sub-field of computer science.

• Genomes of organisms are very large. The human genome is estimated to have three billion base pairs that contain about 25,000 genes.

• For comparison, the fruit fly is estimated to have 165 billion base pairs that contain 13,000 genes.

• Additionally, a subfield of genomics called transcriptomics studies which genes, among the tens of thousands in an organism, are turned on or off at a given time, across multiple time points, and multiple experimental conditions at each time point.

• In other words, “omics” data contain vast amounts of information that the human mind cannot grasp without the help of computational methods in bioinformatics.

Role of genomic in

identification of

disease

• Common diseases such as type 2 diabetes and coronary heart disease result from a complex interplay of genetic and environmental factors.

• Recent developments in genomics research have boosted progress in the discovery of susceptibility genes and fuelled expectations about opportunities of genetic profiling for personalizing medicine.

• Personalized medicine requires a test that fairly accurately predicts disease risk, particularly when interventions are invasive, expensive or have major side effects.

• Recent studies on the prediction of common diseases based on multiple genetic variants alone or in addition to traditional disease risk factors showed limited predictive value so far, but all have investigated only a limited number of susceptibility variants.

• New gene discoveries from genome-wide association studies will certainly further improve the prediction of common diseases.

• Substantial improvements may only be expected if we manage to understand the complete causal mechanisms of common diseases to a similar extent as we understand those of monogenic disorders.

• Genomics research will contribute to this understanding, but it is likely that the complexity of complex diseases may ultimately limit the opportunities for accurate prediction of disease in asymptomatic individuals as unravelling their complete causal pathways may be impossible.

Application of genomics in

• Genetic epidemiology is the study of the role of genetics factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors.

• It is closely allied to both molecular epidemiology and statistical genetics but these overlapping fields each have distinct emphases, societies and journals.

• More recently, the scope of genetic epidemiology has expanded to include common diseases for which many genes each make a smaller contribution (polygenic, multifactorial or mutagenic disorders).

• This has developed rapidly in the first decade of the 21st century following completion of the Human Genome Project, as advances in genotyping technology and associated reductions in cost has made it feasible to conduct large-scale genome-wide association studies that genotype many thousands of single nucleotide polymorphisms in thousands of individuals.

• This traditional approach has proved highly successful in identifying monogenic disorders and locating the genes responsible.

• These have led to the discovery of many genetic polymorphisms that influence the risk of developing many common diseases.

• Proteomics is the large-scale study of proteins, particularly their structures and functions. Proteins are vital parts of living organisms, as they are the main components of the physiological metabolic pathways of cells.

• Proteomics is a rapidly growing field of that is concerned with the systematic, high-throughput approach to protein expression analysis of a cell or an organism.

• Typical results of proteomics studies are inventories of the protein content of differentially expressed proteins across multiple conditions.

History of proteomics

• The first protein studies that can be called proteomics began in 1975 with the introduction of the two-dimensional gel and mapping of the proteins from the bacterium Escherichia coli, guinea pig and mouse. Albeit many proteins could be separated and visualized, they could not be identified.

• The terms “proteome” and “proteomics” were coined in the early 1990s by Marc Wilkins, a student at Australia's Macquarie University, in order to mirror the terms “genomics” and “genome”, which represent the entire collection of genes in an organism

• Following the release of the Human Genome Sequence data in 2004, humans are considered to have 19,599 genes encoding proteins.

• Alternative RNA splicing and post-translational modification may result in 1 million or more proteins or protein fragments. As a consequence, the proteome is far more complex than the genome.

• Advances in methods and technologies have catalysed an expansion of the scope of biological studies from the reductionist biochemical analysis of single proteins to proteome-wide measurements.

• Proteomics and other complementary analysis methods are essential components of the emerging 'systems biology' approach that seeks to comprehensively describe biological systems through integration of diverse types of data and, in the future, to ultimately allow computational simulations of complex biological systems.

• Detailed analysis of the proteome permits the discovery of new protein markers for diagnostic purposes and of novel molecular targets for drug discovery.

Role of proteomics in 

• Proteomics is a branch of Bioinformatics that deals with the techniques of molecular biology, biochemistry, and genetics to analyze the structure, function, and interactions of the proteins produced by the genes of a particular cell, tissue, or organism. This technology is being improved continuously and new tactics are being introduced.

• In the current day and age it is possible to acquire the proteome data.

• Bioinformatics makes it easier to come up with new algorithms to handle large and heterogeneous data sets to improve the processes.

• To date, algorithms for image analysis of 2D gels have been developed. In case of mass spectroscopy, data analysis algorithms for peptide mass fingerprinting and peptide fragmentation fingerprinting have been developed.

• Proteomics technologies are under continuous improvements and new technologies are introduced. Nowadays high throughput acquisition of proteome data is possible.

• The young and rapidly emerging field of bioinformatics in proteomics is introducing new algorithms to handle large and heterogeneous data sets and to improve the knowledge discovery process.

• For example new algorithms for image analysis of two dimensional gels have been developed within the last five years. Within mass spectrometry data analysis algorithms for peptide mass fingerprinting (PMF) and peptide fragmentation fingerprinting (PFF) have been developed.

• Local proteomics bioinformatics platforms emerge as data management systems and knowledge bases in Proteomics. We review recent developments in bioinformatics for proteomics with emphasis on expression proteomics.

Role of proteomics

in drug

development……..

• Proteins are the principal targets of drug discovery. Most large pharmaceutical companies now have a proteomics-oriented biotech or academic partner or have started their own proteomics division.

• Common applications of proteomics in the drug industry include target identification and validation, identification of efficacy and toxicity biomarkers from readily accessible biological fluids, and investigations into mechanisms of drug action or toxicity.

• Proteomics technologies may also help identify protein–protein interactions that influence either the disease state or the proposed therapy.

Role of proteomics in

disease diagnosis……

• Proteomics is widely envisioned as playing a significant role in the translation of genomics to clinically useful applications, especially in the areas of diagnostics and prognostics.

• In the diagnosis and treatment of kidney disease, a major priority is the identification of disease-associated biomarkers. Proteomics, with its high-throughput and unbiased approach to the analysis of variations in protein expression patterns, promises to be the most suitable platform for biomarker discovery.

• Combining such classic analytical techniques as two-dimensional gel electrophoresis with more sophisticated techniques, such as MS, has enabled considerable progress to be made in cataloguing and quantifying proteins present in urine and various kidney tissue compartments diseased physiological states.

Role of proteomics in

medicine…..

• Proteomics is vital for decrypting how proteins interact as a system and for comprehending the functions of cellular systems in human disease.

• Advances in mass spectrometry, coupled with better isolation and enrichment techniques which allows the separation of organelles and membrane proteins, made the in-depth analysis of cardiac proteome a reality.

• While neurovascular diseases such as ischemic and haemorrhagic stroke are the leading causes of disability in the world, the repertoire of therapeutic interventions has remained remarkably limited.

• There is a dire need to develop new diagnostic, prognostic, and therapeutic options. The study of proteomics is particularly enticing for cerebrovascular diseases such as stroke, which most likely involve multiple gene interactions resulting in a wide range of clinical phenotypes.

• Currently, rapidly progressing neuroproteomic techniques have been employed in clinical and translational research to help identify biologically relevant pathways.

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