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Bioinformatics and Genetics

Genetics, a discipline of biology, is the science of genes, deals with the molecular structure and function of genes, gene behaviour of a cell or organism, patterns of inheritance from parent to offspring, and gene distribution, variation and change in populations, such as through Genome-Wide Association Studies. Genetics can be applied to the study of all living systems, from viruses and bacteria, plants and domestic animals, to humans. Thus, the Genetics is the modern science, which attempts to understand the process of inheritance.


Almost every human trait and disease has a genetic component, whether inherited or influenced by behavioral factors. Genetic components can also modify the body’s response to environmental factors. By understanding the concepts of human genetics and the role of genes, behavior, and the environment is important for appropriately collecting and applying genetic and genomic information and technologies during clinical care. It's important in improving disease diagnosis, genetic analysis and treatment as well. The sequencing technology getting widely applied, has become a very common approach for genetic diagnosis. For instance, genetic analysis can be used to prove the existence of an organism.




Genetic information differs between individuals of a species. Although this variation helps the species adapt and survive, it also causes some individuals to be prone to specific diseases or to have genetic diseases. Advanced genetic studies are carried out to link the diseases to the responsible genes or mutations. These kind of situations are the crossroads for research, where bioinformatic applications are required. A number of trends and recent developments, including NGS. bio-ontologies and the Semantic Web, and the ever-increasing role of IT systems are confronting human genetics researchers with growing amounts of information that can be difficult to interpret. However, the rapid development of bioinformatic tools is allowing clinicians and scientists to analyze these data more efficiently and accurately. Correspondingly, the field of human genetics is making greater use of bioinformatic algorithms and tools.


Genomics; a branch of genetics that studies large scale changes in genomes of organisms. Genomics and its subfield of transcriptomics, which studies genome-wide changes in the RNA that is transcribed from DNA, studies many genes at once. Genomics may also involve reading and aligning very long sequences of DNA or RNA. Analyzing and interpreting such large-scale, complex data requires the help of computers. The human mind, is incapable of handling this much information. Bioinformatics is used, that brings together the knowledge of biology and computational approaches.


Genome 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. The huge demand for analysis and interpretation of these data is being managed by the evolving science of Bioinformatics.


One of the most important aspects of bioinformatics is identifying genes within a long DNA sequence. Until the development of bioinformatics, the only way to locate genes along the chromosome was to study their behavior in the organism (in vivo) or isolate the DNA and study it in a test tube (in vitro). Bioinformatics allows scientists to make educated about where genes are located simply by analyzing sequence data using a computer (in silico).


Mostly, the raw material of bioinformatics is the genetic data and the related gene expression. Bioinformaticians process the genetic data, so they must have solid genetic background. But the working principle is quite similar with other data analysts. So, even some people, who are educated in bioinformatics, prefer to work in other fields such as Molecular biology, Genomics, proteomics, microbiology etc. Training programs in bioinformatics should include human genetics and genomics, and correspondingly, training programs in medicine and human genetics will need to increase coverage statistics, genomics, and even bioinformatics.

This way, bioinformatics education will open up the doors of a big world for you.


Bioinformatics now entails the creation and advancement of databases, algorithms, computational and statistical techniques, and theory to solve formal and practical problems arising from the management and analysis of biological data. It's main goal is to increase our understanding of biological processes. Its focus on developing and applying computationally intensive techniques (pattern recognition, data mining, machine learning algorithms, and visualization) to achieve this goal. Major research efforts in the field include sequence alignment, gene finding, genome assembly, protein structure alignment, protein structure prediction, prediction of gene expression and protein-protein interactions, genome-wide association studies and the modeling of evolution.

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