Evan E. Eichler
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Evan E. Eichler
Evan E. Eichler is an investigator at Howard Hughes Medical Institute studying human genome evolution, genome variation and their role in diseases. He is also a Professor of Genome Sciences at the University of Washington School of Medicine, Seattle. Education Eichler was educated at the University of Saskatchewan and Baylor College of Medicine where he was awarded his PhD in 1995 for work on the FMR1 gene. Research Eichler is considered one of the experts in genome instability studies, segmental duplication and structural variation. Awards * Eichler is an elected Fellow of the American Association for the Advancement of Science. * Eichler received the 2008 Curt Stern Award from the American Society of Human Genetics. * He was a co-recipient of the 2010 Newcomb Cleveland Prize by the American Association for the Advancement of Science as one of the co-authors of the May 2010 paper in ''Science'' on draft sequencing of the Neanderthal genome. * Eichler is also a member of the N ...
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Genomics
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 ...
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PhysOrg
Phys.org is an online science, research and technology news aggregator offering briefs from press releases and reports from news agencies (a form of journalism sometimes pejoratively called churnalism). The website also produces its own science journalism. Phys.org is one of the most updated science websites, with an average of 98 posts per day. It is part of the Science X network of websites, headquartered on the Isle of Man, United Kingdom. In April 2011, Phys.org launched the Medical Xpress site dedicated to content on medicine and health. See also * EurekAlert! * Science Daily ''Science Daily'' is an American website launched in 1995 that aggregates press releases and publishes lightly edited press releases (a practice called churnalism) about science, similar to Phys.org and EurekAlert!. The site was founded by mar ... References External links * British news websites Technology websites British technology news websites News aggregators British science websit ...
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Howard Hughes Medical Investigators
The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization based in Chevy Chase, Maryland. It was founded in 1953 by Howard Hughes, an American business magnate, investor, record-setting pilot, engineer, film director, and philanthropist, known during his lifetime as one of the most financially successful individuals in the world. It is one of the largest private funding organizations for biological and medical research in the United States. HHMI spends about $1 million per HHMI Investigator per year, which amounts to annual investment in biomedical research of about $825 million. The institute has an endowment of $22.6 billion, making it the second-wealthiest philanthropic organization in the United States and the second-best endowed medical research foundation in the world. HHMI is the former owner of the Hughes Aircraft Company – an American aerospace firm which was divested to various firms over time. History The institute was fo ...
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Members Of The United States National Academy Of Sciences
Member may refer to: * Military jury, referred to as "Members" in military jargon * Element (mathematics), an object that belongs to a mathematical set * In object-oriented programming, a member of a class ** Field (computer science), entries in a database ** Member variable, a variable that is associated with a specific object * Limb (anatomy), an appendage of the human or animal body ** Euphemism for penis * Structural component of a truss, connected by nodes * User (computing), a person making use of a computing service, especially on the Internet * Member (geology), a component of a geological formation * Member of parliament * The Members, a British punk rock band * Meronymy, a semantic relationship in linguistics * Church membership, belonging to a local Christian congregation, a Christian denomination and the universal Church * Member, a participant in a club or learned society A learned society (; also learned academy, scholarly society, or academic association) is an ...
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Living People
Related categories * :Year of birth missing (living people) / :Year of birth unknown * :Date of birth missing (living people) / :Date of birth unknown * :Place of birth missing (living people) / :Place of birth unknown * :Year of death missing / :Year of death unknown * :Date of death missing / :Date of death unknown * :Place of death missing / :Place of death unknown * :Missing middle or first names See also * :Dead people * :Template:L, which generates this category or death years, and birth year and sort keys. : {{DEFAULTSORT:Living people 21st-century people People by status ...
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Genome
In the fields of molecular biology and genetics, a genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or RNA in RNA viruses). The nuclear genome includes protein-coding genes and non-coding genes, other functional regions of the genome such as regulatory sequences (see non-coding DNA), and often a substantial fraction of 'junk' DNA with no evident function. Almost all eukaryotes have mitochondria and a small mitochondrial genome. Algae and plants also contain chloroplasts with a chloroplast genome. The study of the genome is called genomics. The genomes of many organisms have been sequenced and various regions have been annotated. The International Human Genome Project reported the sequence of the genome for ''Homo sapiens'' in 200The Human Genome Project although the initial "finished" sequence was missing 8% of the genome consisting mostly of repetitive sequences. With advancements in technology that could handle sequenci ...
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Neanderthal
Neanderthals (, also ''Homo neanderthalensis'' and erroneously ''Homo sapiens neanderthalensis''), also written as Neandertals, are an extinct species or subspecies of archaic humans who lived in Eurasia until about 40,000 years ago. While the "causes of Neanderthal disappearance about 40,000 years ago remain highly contested," demographic factors such as small population size, inbreeding and genetic drift, are considered probable factors. Other scholars have proposed competitive replacement, assimilation into the modern human genome (bred into extinction), great climatic change, disease, or a combination of these factors. It is unclear when the line of Neanderthals split from that of modern humans; studies have produced various intervals ranging from 315,000 to more than 800,000 years ago. The date of divergence of Neanderthals from their ancestor ''H. heidelbergensis'' is also unclear. The oldest potential Neanderthal bones date to 430,000 years ago, but the classification ...
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Science (journal)
''Science'', also widely referred to as ''Science Magazine'', is the peer-reviewed academic journal of the American Association for the Advancement of Science (AAAS) and one of the world's top academic journals. It was first published in 1880, is currently circulated weekly and has a subscriber base of around 130,000. Because institutional subscriptions and online access serve a larger audience, its estimated readership is over 400,000 people. ''Science'' is based in Washington, D.C., United States, with a second office in Cambridge, UK. Contents The major focus of the journal is publishing important original scientific research and research reviews, but ''Science'' also publishes science-related news, opinions on science policy and other matters of interest to scientists and others who are concerned with the wide implications of science and technology. Unlike most scientific journals, which focus on a specific field, ''Science'' and its rival ''Nature (journal), Nature'' c ...
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American Society Of Human Genetics
The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The Society's members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others who have a special interest in the field of human genetics. As the field of human genetics has expanded, ASHG has founded additional organizations within its membership body, including the following: * National Society of Genetic Counselors, founded in 1979, as an advocacy group for the nascent field of genetic counseling. * American Board of Medical Genetics, founded in 1981, to certify practitioners in human genetics. * American Board of Genetic Counseling, founded in 1991, to certify genetic counselors. * American College of Medical Genetics, founded in 1991, as a specialty board for medical geneticists at the doctoral level. It achieve ...
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American Association For The Advancement Of Science
The American Association for the Advancement of Science (AAAS) is an American international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsibility, and supporting scientific education and science outreach for the betterment of all humanity. It is the world's largest general scientific society, with over 120,000 members, and is the publisher of the well-known scientific journal ''Science''. History Creation The American Association for the Advancement of Science was created on September 20, 1848, at the Academy of Natural Sciences in Philadelphia, Pennsylvania. It was a reformation of the Association of American Geologists and Naturalists. The society chose William Charles Redfield as their first president because he had proposed the most comprehensive plans for the organization. According to the first constitution which was agreed to at the September 20 meeting, the goal of ...
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Structural Variation
Genomic structural variation is the variation in structure of an organism's chromosome. It consists of many kinds of variation in the genome of one species, and usually includes microscopic and submicroscopic types, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the definitions have some overlap). However, the operational range of structural variants has widened to include events > 50bp. The definition of structural variation does not imply anything about frequency or phenotypical effects. Many structural variants are associated with genetic diseases, however many are not. Recent research about SVs indicates that SVs are more difficult to detect than SNPs. Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least 2 ...
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Segmental Duplication
Low copy repeats (LCRs), also known as segmental duplications (SDs), are highly homologous sequence elements within the eukaryotic genome. Repeats The repeats, or duplications, are typically 10–300 kb in length, and bear greater than 95% sequence identity. Though rare in most mammals, LCRs comprise a large portion of the human genome owing to a significant expansion during primate evolution. In humans, chromosomes Y and 22 have the greatest proportion of SDs: 50.4% and 11.9% respectively. Misalignment of LCRs during non-allelic homologous recombination (NAHR) is an important mechanism underlying the chromosomal microdeletion disorders as well as their reciprocal duplication partners. Many LCRs are concentrated in "hotspots", such as the 17p11-12 region, 27% of which is composed of LCR sequence. NAHR and non-homologous end joining (NHEJ) within this region are responsible for a wide range of disorders, including Charcot–Marie–Tooth syndrome type 1A, hereditary neuropat ...
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