Real world applications of bioinformatics
Basic Research
Biomedicine
Microbiology
- Biotechnology
- Waste cleanup
- Climate change
- Alternative energy sources
- Antibiotic resistance
- Epidemiological studies
Agriculture
- Crops
- Insect resistance
- Improving of nutritional quality
Bioinformatics in basic research
"If you can’t do Bioinformatics, you can’t do Biology"
J.D. Tisdall, Beginning Perl for Bioinformatics, 2003
The huge mass of genomic data generated by high performance technologies are impossible to handle without a parallel development in computational resources enabling the storage, management and analysis of genomic information. Bioinformatics has acquired a fundamental role in the genomic era. The millions DNA sequences fragments produced by new generation sequencers are sorted and assembled with sophisticated bioinformatics software. Once the sequence is assembled, then it's time to make sense of it. Annotation software search for functional signals in the genomes to infer coding genes in the sequence and other type of functional non-coding sequences.
Multidisciplinary and complementary teams
Genomics has changed the sociology of biological research. The size and complexity of the genome projects require large collaborative scientific networks with complementary and multidisciplinary teams. Many of the publications about genomes are signed by dozens, even hundreds, of scientists coming from various research centers of different countries, and this trend is steadly growing. Small laboratories will continue existing, but its relative weigth will diminish in research. The ability to collaborate and to establish links with other research groups, to use Internet resources and be fluent in English are some of essential geneticist’s skills in the postgenomic era.
- Comparative and evolutionary genomics
The comparison of genomes either the close or distant species is a very useful approach to unravel the evolutionary processes that occur in the genome. This also makes it possible to know, from the conserved sequences between species, which are the genome functional parts. For example, when human and mouse genomes were compared, it was observed that 5% of both sequences was conserved, from which it inferred that this was the minimum amount of functional DNA in both genomes. Comparing the human genome with the chimpanzee has allowed us to quantify the differences that have accumulated in both genomes since they diverged about six million years from their common ancestor.
- Functional genomics and other omics
Functional genomics is the comprehensive analysis of function, expression and interaction of all genes in an organism. With the development of high performance technologies it’s possible to study the simultaneous expression of genes in the genome, and also the interactions of their proteins. Following the term genome (gene + ome, were ome is understood as "all genes"), other “omics” terms have been used to describe the study of other global data sets. The transcriptome (the sequences and expression patterns of all transcripts), the proteome (the sequences and expression patterns of all proteins), the interactome (the complete set of physical interactions between proteins, DNA sequences and RNA), the epigenome (the complete set of epigenetic modifications on the genetic material of a cell), are some examples.
- Genome Wide Association analysis
To find out what genetic variants make us different each other within our specie, it is necessary to study the genomes of many individuals. The HapMap project was the next milestone after the genome sequencing. His goal was to characterize genetic variation patterns in different ethnic groups of the human species, as a preliminary step to take on genome-wide studies able to associate genetic variants with different aspects on the phenotype, especially those that confer susceptibility to disease. The joint application of genetic variation efficient technologies, bioinformatics tools and statistical analysis make possible the comprehensive catalog of genetic variants affecting human phenotype, with their enormous implications arising for prevention, diagnosis and personalized treatment of diseases.
Biomedicine
The human genome will have profound effects on the fields of biomedical research and clinical medicine. Almost every disease has a genetic component. The completion of the human genome means that we can search for the genes directly associated with different diseases and begin to understand the molecular basis of these diseases more clearly. This new knowledge of the molecular mechanisms of disease will enable better treatments, cures and even preventative tests to be developed.
Using computational tools to identify and validate new drug targets, more specific medicines that act on the cause not merely the symptoms of the disease can be developed. These highly specific drugs will have fewer side effects than many of today's medicines.
Clinical medicine will become more personalized with the development of the field of pharmacogenomics. This is the study of how an individual's genetic inheritance affects the body's response to drugs.
Today, doctors have to use trial and error to find the best drug to treat a particular patient as those with the same clinical symptoms can show a wide range of responses to the same treatment. In the future, doctors will be able to analyze a patient's genetic profile and prescribe the best available drug therapy and dosage from the beginning.
With the specific details of the genetic mechanisms of diseases being unraveled, the development of diagnostic tests to measure a person’s susceptibility to different diseases may become a distinctive reality. Preventive actions such as change of lifestyle or having treatment at the earliest possible stages when they are more likely to be successful, could result in huge advances in our struggle to conquer disease.
In the not too distant future, the potential for using genes themselves to treat disease may become a reality. Gene therapy is the approach used to treat, cure or even prevent disease by changing the expression of a person’s genes.
Microbiology
By studying microorganisms genome 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. The arrival of the complete genome sequences and their potential to provide a greater insight into the microbial world and its capacities could have broad and far reaching implications for environment, health, energy and industrial applications.
- Biotechnology
- Waste cleanup
- Climate change
- Alternative energy sources
- Antibiotic resistance
- Epidemiological studies
Agriculture
The sequencing of the genomes of plants and animals should have enormous benefits for the agricultural community. Bioinformatic tools can be used to search for the genes within these genomes and to elucidate their functions. This specific genetic knowledge could then be used to produce stronger, more drought, disease and insect resistant crops and improve the quality of livestock making them healthier, more disease resistant and more productive.
- Crops
- Insect resistance
- Improving nutritional quality
