Genomics is an interdisciplinary field of 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.
Marco A. Marra is a Distinguished Scientist and Director of Canada's Michael Smith Genome Sciences Centre at the BC Cancer Research Centre and Professor of Medical Genetics at the University of British Columbia (UBC). He also serves as UBC Canada Research Chair in Genome Science for the Canadian Institutes of Health Research and is an inductee in the Canadian Medical Hall of Fame. Marra has been instrumental in bringing genome science to Canada by demonstrating the pivotal role that genomics can play in human health and disease research.
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.
Washington University School of Medicine (WUSM) is the medical school of Washington University in St. Louis, a private research university with its main campus in St. Louis County, and Clayton, Missouri. Founded in 1891, the School of Medicine shares a campus with Barnes-Jewish Hospital, Alvin J. Siteman Cancer Center, and Central Institute for the Deaf. It has consistently ranked among the top medical schools in the United States in terms of the number/amount of research grants/funding awarded by the National Institutes of Health, among other measures.
The Influenza Genome Sequencing Project (IGSP), initiated in early 2004, seeks to investigate influenza evolution by providing a public data set of complete influenza genome sequences from collections of isolates representing diverse species distributions.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a physical and a functional standpoint. It started in 1990 and was completed in 2003. It remains the world's largest collaborative biological project. Planning for the project started after it was adopted in 1984 by the US government, and it officially launched in 1990. It was declared complete on April 14, 2003, and included about 92% of the genome. Level "complete genome" was achieved in May 2021, with a remaining only 0.3% bases covered by potential issues. The final gapless assembly was finished in January 2022.
David Haussler is an American bioinformatician known for his work leading the team that assembled the first human genome sequence in the race to complete the Human Genome Project and subsequently for comparative genome analysis that deepens understanding the molecular function and evolution of the genome.
The Cancer Genome Atlas (TCGA) is a project to catalogue the genetic mutations responsible for cancer using genome sequencing and bioinformatics. The overarching goal was to apply high-throughput genome analysis techniques to improve the ability to diagnose, treat, and prevent cancer through a better understanding of the genetic basis of the disease.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
The Human Microbiome Project (HMP) was a United States National Institutes of Health (NIH) research initiative to improve understanding of the microbiota involved in human health and disease. Launched in 2007, the first phase (HMP1) focused on identifying and characterizing human microbiota. The second phase, known as the Integrative Human Microbiome Project (iHMP) launched in 2014 with the aim of generating resources to characterize the microbiome and elucidating the roles of microbes in health and disease states. The program received $170 million in funding by the NIH Common Fund from 2007 to 2016.
Eric D. Green is an American genomics researcher who had significant involvement in the Human Genome Project. He is the director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), a position he has held since 2009.
Cancer genome sequencing is the whole genome sequencing of a single, homogeneous or heterogeneous group of cancer cells. It is a biochemical laboratory method for the characterization and identification of the DNA or RNA sequences of cancer cell(s).
Richard K. Wilson is a leading American molecular geneticist. He is the founding Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and Professor of Pediatrics at the Ohio State University College of Medicine. He received his A.B. degree (Microbiology) from Miami University in Ohio in 1981, his Ph.D. (Chemistry) from the University of Oklahoma in 1986, and was a Research Fellow in the Division of Biology at the California Institute of Technology (1986-1990). In 1990, Dr. Wilson joined the faculty of Washington University School of Medicine where he co-founded the Genome Sequencing Center/McDonnell Genome Institute. At Washington University, Dr. Wilson was the Alan A. and Edith L. Wolff Distinguished Professor of Medicine, Professor of Genetics, Professor of Molecular Microbiology, and a member of the Senior Leadership Committee of the Siteman Cancer Center.
George M. Weinstock is an American geneticist and microbiologist on the faculty of The Jackson Laboratory for Genomic Medicine, where he is a professor and the associate director for microbial genomics. Before joining The Jackson Laboratory, he taught at Washington University in St. Louis and served as associate director of The Genome Institute. Previously, Dr. Weinstock was co-director of the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine in Houston, Texas, and Professor of Molecular and Human Genetics there.[1] He received his B.S. degree from the University of Michigan in 1970 and his Ph.D. from the Massachusetts Institute of Technology in 1977. He has spent most of his career taking genomic approaches to study fundamental biological processes.
Elaine R. Mardis is the co-executive director of the Institute for Genomic Medicine at Nationwide Children's Hospital, where she also serves as the Nationwide Foundation Endowed Chair in Genomic Medicine. She also is professor of pediatrics at the Ohio State University College of Medicine. Mardis’s research focuses on the genomic characterization of cancer and its implications for cancer medicine. She was part of the team that reported the first next-generation-based sequencing of a whole cancer genome, and participated extensively in The Cancer Genome Atlas (TCGA) and the Pediatric Cancer Genome Project (PCGP).
The Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine is a cancer treatment, research and education institution with six locations in the St. Louis area. Siteman is the only cancer center in Missouri and within 240 miles of St. Louis to be designated a Comprehensive Cancer Center by the National Cancer Institute (NCI). Siteman is also the only area member of the National Comprehensive Cancer Network, a nonprofit alliance of 32 cancer centers dedicated to improving the quality and effectiveness of cancer care.
The genomic epidemiological database for global identification of microorganisms or global microbial identifier is a platform for storing whole genome sequencing data of microorganisms, for the identification of relevant genes and for the comparison of genomes to detect and track-and-trace infectious disease outbreaks and emerging pathogens. The database holds two types of information: 1) genomic information of microorganisms, linked to, 2) metadata of those microorganism such as epidemiological details. The database includes all genera of microorganisms: bacteria, viruses, parasites and fungi.
Elaine Ann Ostrander is an American geneticist at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) in Bethesda, Maryland. She holds a number of professional academic appointments, currently serving as Distinguished and Senior Investigator and head of the NHGRI Section of Comparative Genomics; and Chief of the Cancer Genetics and Comparative Genomics Branch. She is known for her research on prostate cancer susceptibility in humans and for conducting genetic investigations with the Canis familiaris —the domestic dog— model, which she has used to study disease susceptibility and frequency and other aspects of natural variation across mammals. In 2007, her laboratory showed that much of the variation in body size of domestic dogs is due to sequence changes in a single gene encoding a growth-promoting protein.
