Science made simple: what is genomics?

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A genome is the complete set of DNA of an organism, including all its genes as well as its three-dimensional hierarchical structure. Genomics is an interdisciplinary field of biology that focuses on the structure, function, evolution, mapping, and editing of genomes.

Genomics is an interdisciplinary scientific field that focuses on the structure, function, evolution, mapping and editing of genomes. A genome is the complete set of DNA

DNA, or deoxyribonucleic acid, is a molecule composed of two long strands of nucleotides that coil around each other to form a double helix. It is the hereditary material in humans and almost all other organisms that carries genetic instructions for development, functioning, growth, and reproduction. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).
” data-gt-translate-attributes=”[{” attribute=””>DNA, including all of its genes. An organism’s genes direct the production of proteins with the help of enzymes and messenger molecules. Genomics contrasts with genetics, which refers to the study of individual genes and their roles in heredity. Instead, genomics aims for the collective characterization and quantification of genes, their interrelationships, and their influence on the organism.

Network illustrating correlations between genes in a population

A visualization of a network describing the correlations between genes in a population. These correlations can be used to identify genetic markers linked to complex observable traits. Credit: Oak Ridge National Laboratory

Genomics Facts

  • Functional genomics attempts to use the wealth of data produced by genomics projects (such as genome sequencing) to describe the functions and interactions of genes and proteins.
  • Structural genomics seeks to describe the three-dimensional structure of each protein encoded by a given genome.
  • Epigenomics is the study of the complete set of epigenetics. Epigenetics is the study of how genes are modified. Express can change organisms and not just change the genes themselves. Epigenomics studies how epigenetic changes lead to changes in the genetic material of a cell.

DOE Office of Science and Genomics

One of the most significant developments in the field of biology over the past century has been the Human Genome Project (HGP). The HGP was a 10-year effort led by the US government that culminated in the first complete sequencing of a human genome in 2000. The HGP launched the field of genomics, transformed medicine, and largely gave birth to the industry of modern biotechnology.

In 2022, the first truly complete sequence of a human genome was announced. It covers each chromosome end-to-end without gaps and unprecedented accuracyand covered crucial regions representing approximately 8% of the human genome that have remained hidden from scientists for more than 20 years due to the limitations of DNA sequencing technologies.

The original idea and impetus for the HGP came from the DOE’s Office of Science (then called the Office of Energy Research). Many researchers considered sequencing an entire human genome nearly impossible. But based on the DOE’s long experience with “Big Science” efforts dating back to the Manhattan Project, the HGP pioneers had confidence in the federal government’s ability to deploy sufficient resources to accomplish this task. The DOE’s original reason for leading the HGP was its interest in better understanding the genetic effects of radiation exposure. But the DOE and the scientific community knew that the success of the project would have much broader consequences for science and society. Today, DOE support for the work of the Joint Genome Institute User Facility and other institutions is advancing genomics for clean energy production and environmental characterization and cleanup.

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