The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly repetitive sequences. Introns make up a large percentage of non-coding DNA. Some of this non-coding DNA is non-functional junk DNA, such as pseudogenes, but there is no firm consensus on the total amount of junk DNA.
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.
Yang Huanming is a Chinese biologist, businessman and one of China's leading genetics researchers. He is Chairman and co-founder of the Beijing Genomics Institute, formerly of the Chinese Academy of Sciences. He was elected as member of the Chinese Academy of Sciences in 2007, a foreign academician of Indian National Science Academy in 2009, a member of the German National Academy of Sciences in 2012, and foreign associate of the US National Academy of Science in 2014.
Victor Almon McKusick was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore. He was a proponent of the mapping of the human genome due to its use for studying congenital diseases. He is well known for his studies of the Amish. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM). He is widely known as the "father of medical genetics".
Bartha Maria Knoppers, OC OQ is a Canadian law Professor and an expert on the ethical aspects of genetics, genomics and biotechnology.
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 only 0.3% of the bases covered by potential issues. The final gapless assembly was finished in January 2022.
Karen B. Avraham is an Israeli-American human geneticist and the first female Dean of the Tel Aviv University's Faculty of Medicine. Born in Canada in 1962, Avraham moved to the US at a young age. Her research focuses on the discovery and characterization of genes responsible for hereditary hearing loss.
The following outline is provided as an overview of and topical guide to genetics:
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 HUGO Gene Nomenclature Committee (HGNC) is a committee of the Human Genome Organisation (HUGO) that sets the standards for human gene nomenclature. The HGNC approves a unique and meaningful name for every known human gene, based on a query of experts. In addition to the name, which is usually 1 to 10 words long, the HGNC also assigns a symbol to every gene. As with an SI symbol, a gene symbol is like an abbreviation but is more than that, being a second unique name that can stand on its own just as much as substitute for the longer name. It may not necessarily "stand for" the initials of the name, although many gene symbols do reflect that origin.
Mark Borodovsky is a Regents' Professor at the Join Wallace H. Coulter Department of Biomedical Engineering of Georgia Institute of Technology and Emory University and Director of the Center for Bioinformatics and Computational Genomics at Georgia Tech. He has also been a Chair of the Department of Bioinformatics at the Moscow Institute of Physics and Technology in Moscow, Russia from 2012 to 2022.
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.
Dietrich A. Stephan is an American human geneticist and entrepreneur who works in personalized medicine. Stephan is currently CEO of NeuBase Therapeutics and a General Partner in Cyto Ventures. Before NeuBase, Stephan was CEO of LifeX and Chairman and Professor of Human Genetics at the University of Pittsburgh. Prior, he was founding Chairman of the Neurogenomics Division at the Translational Genomics Research Institute. Stephan has founded or co-founded 14 biotechnology companies and advised many others. Stephan was co-founder of Navigenics, a personal genetics company.
Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.
GeneCards is a database of human genes that provides genomic, proteomic, transcriptomic, genetic and functional information on all known and predicted human genes. It is being developed and maintained by the Crown Human Genome Center at the Weizmann Institute of Science, in collaboration with LifeMap Sciences.
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.
Christine Patch is a nurse and genetic counsellor. She is a Principal Staff Scientist in Genomic Counselling in the Society and Ethics Research group, part of Wellcome Connecting Science, based on the Wellcome Genome Campus. She is also the Clinical Lead for Genetic Counselling at Genomics England, and a former President of the European Society of Human Genetics.
Wylie Burke is a Professor Emerita and former Chair of the Department of Bioethics and Humanities at the University of Washington and a founding co-director of the Northwest-Alaska Pharmacogenomics Research Network, which partners with underserved populations in the Pacific Northwest and Alaska.
MGI or MGI Tech is a Chinese biotechnology company, which provides a line of products and technologies that serves the genetic sequencing, genotyping and gene expression, and proteomics markets. Its headquarters are located in Shenzhen, China.
