Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine). This is then reported as a text string, called a read. Some DNA sequencers can be also considered optical instruments as they analyze light signals originating from fluorochromes attached to nucleotides.
The John Innes Centre (JIC), located in Norwich, Norfolk, England, is an independent centre for research and training in plant and microbial science founded in 1910. It is a registered charity grant-aided by the Biotechnology and Biological Sciences Research Council (BBSRC), the European Research Council (ERC) and the Bill and Melinda Gates Foundation and is a member of the Norwich Research Park. In 2017, the John Innes Centre was awarded a gold Athena SWAN Charter award.
Biotechnology and Biological Sciences Research Council (BBSRC), part of UK Research and Innovation, is a non-departmental public body (NDPB), and is the largest UK public funder of non-medical bioscience. It predominantly funds scientific research institutes and university research departments in the UK.
DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery.
Metagenomics is the study of genetic material recovered directly from environmental or clinical samples by a method called sequencing. The broad field may also be referred to as environmental genomics, ecogenomics, community genomics or microbiomics.
The Babraham Institute is a life sciences research institution focussing on healthy ageing. The Babraham Institute is based on the Babraham Research Campus, partly occupying a former manor house, but also laboratory and science facility buildings on the campus, surrounded by an extensive parkland estate, just south of Cambridge, England. It is an independent and charitable organization which is involved in biomedical research, including healthy aging and molecular biology. The director is Dr Simon Cook who also leads the Institute's signalling research programme.
Illumina, Inc. is an American biotechnology company, headquartered in San Diego, California. Incorporated on April 1, 1998, Illumina develops, manufactures, and markets integrated systems for the analysis of genetic variation and biological function. The company provides a line of products and services that serves the sequencing, genotyping and gene expression, and proteomics markets, and serves more than 155 countries.
The Sainsbury Laboratory (TSL) is a research institute located at the Norwich Research Park in Norwich, Norfolk, England, that carries out fundamental biological research and technology development on aspects of plant disease, plant disease resistance and microbial symbiosis in plants. The Sainsbury Laboratory partners with the John Innes Centre on a Plant Health Institute Strategic Program (ISP) funded by the Biotechnology and Biological Sciences Research Council (BBSRC).
Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
In bioinformatics, hybrid genome assembly refers to utilizing various sequencing technologies to achieve the task of assembling a genome from fragmented, sequenced DNA resulting from shotgun sequencing. Genome assembly presents one of the most challenging tasks in genome sequencing as most modern DNA sequencing technologies can only produce reads that are, on average, 25–300 base pairs in length. This is orders of magnitude smaller than the average size of a genome. This assembly is computationally difficult and has some inherent challenges, one of these challenges being that genomes often contain complex tandem repeats of sequences that can be thousands of base pairs in length. These repeats can be long enough that second generation sequencing reads are not long enough to bridge the repeat, and, as such, determining the location of each repeat in the genome can be difficult. Resolving these tandem repeats can be accomplished by utilizing long third generation sequencing reads, such as those obtained using the PacBio RS DNA sequencer. These sequences are, on average, 10,000–15,000 base pairs in length and are long enough to span most repeated regions. Using a hybrid approach to this process can increase the fidelity of assembling tandem repeats by being able to accurately place them along a linear scaffold and make the process more computationally efficient.
Pacific Biosciences of California, Inc. is an American biotechnology company founded in 2004 that develops and manufactures systems for gene sequencing and some novel real time biological observation. PacBio has two principal sequencing platforms: single-molecule real-time sequencing (SMRT), based on the properties of zero-mode waveguides and sequencing by binding (SBB) chemistry, which uses native nucleotides and scarless incorporation for DNA binding and extension.
Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation sequencing. Some of these technologies emerged between 1993 and 1998 and have been commercially available since 2005. These technologies use miniaturized and parallelized platforms for sequencing of 1 million to 43 billion short reads per instrument run.
The Wellcome Centre for Human Genetics is a human genetics research centre of the Nuffield Department of Medicine in the Medical Sciences Division, University of Oxford, funded by the Wellcome Trust among others.
Norwich Research Park (NRP) is a business community located to the southwest of Norwich in East Anglia close to the A11 and the A47 roads. Set in a 568-acre (230-hectare) area of parkland, it is one of five Biotechnology and Biological Sciences Research Council (BBSRC) funded campuses. It is the only site with three BBSRC funded research institutes and the focus of the community is on creating and supporting new companies and jobs based on bioscience.
Sir David Klenerman is a British biophysical chemist and a professor of biophysical chemistry at the Department of Chemistry at the University of Cambridge and a Fellow of Christ's College, Cambridge.
Shantanu Chowdhury is an Indian structural biologist and a professor at Institute of Genomics and Integrative Biology of the Council of Scientific and Industrial Research. He is known for developing a mechanism for gene regulation mediated by DNA Secondary-Structure in diverse cellular contexts. An elected fellow of the National Academy of Sciences, India, he is a recipient of the National Bioscience Award for Career Development of the Department of Biotechnology in 2010. The Council of Scientific and Industrial Research, the apex agency of the Government of India for scientific research, awarded him the Shanti Swarup Bhatnagar Prize for Science and Technology, one of the highest Indian science awards, in 2012, for his contributions to biological sciences.
Third-generation sequencing is a class of DNA sequencing methods which produce longer sequence reads, under active development since 2008.
The Quadram Institute is a centre for food and health research, combining Quadram Institute Bioscience, the Norfolk and Norwich University Hospitals' endoscopy centre and aspects of the University of East Anglia's Norwich Medical School and the Faculty of Science. It is located on the outskirts of Norwich, England, and is a member of the Norwich Research Park.
Korean Genome Project (KGP) is the largest Korean Genome Project which currently includes over 10,000 human genomes sequenced in Korea by April 2021.
