Haploview
Haploview is a commonly used bioinformatics software which is designed to analyze and visualize patterns of linkage disequilibrium (LD) in genetic data. Haploview can also perform association studies, choosing tagSNPs{{cite journal, author1=de Bakker P. I. , author2=Yelensky R. , author3=Pe'er I. , author4=Gabriel S. B. , author5=Daly M. J. , author6=Altshuler D. , title=Efficiency and power in genetic association studies, journal=Nature Genetics, year=2005, volume=37, pages=1217–23, doi=10.1038/ng1669, pmid=16244653, issue=11 and estimating haplotype frequencies. Haploview is developed and maintained by Dr. Mark Daly's lab at the MIT/ Harvard Broad Institute. Haploview currently supports the following functionalities: * LD & haplotype block analysis * Haplotype population frequency estimation * Single SNP and haplotype association tests * Permutation testing for association significance * Implementation of Paul de Bakker's Tagger tag SNP selection algorithm * Automatic do ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Linkage Disequilibrium
In population genetics, linkage disequilibrium (LD) is the non-random association of alleles at different loci in a given population. Loci are said to be in linkage disequilibrium when the frequency of association of their different alleles is higher or lower than what would be expected if the loci were independent and associated randomly. Linkage disequilibrium is influenced by many factors, including selection, the rate of genetic recombination, mutation rate, genetic drift, the system of mating, population structure, and genetic linkage. As a result, the pattern of linkage disequilibrium in a genome is a powerful signal of the population genetic processes that are structuring it. In spite of its name, linkage disequilibrium may exist between alleles at different loci without any genetic linkage between them and independently of whether or not allele frequencies are in equilibrium (not changing with time). Furthermore, linkage disequilibrium is sometimes referred to as gamet ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Haplotype
A haplotype ( haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material ( DNA) which is inherited from two parents. Normally these organisms have their DNA organized in two sets of pairwise similar chromosomes. The offspring gets one chromosome in each pair from each parent. A set of pairs of chromosomes is called diploid and a set of only one half of each pair is called haploid. The haploid genotype (haplotype) is a genotype that considers the singular chromosomes rather than the pairs of chromosomes. It can be all the chromosomes from one of the parents or a minor part of a chromosome, for example a sequence of 9000 base pairs. However, there are other uses of this term. First, it is used to mean a collection of specific alleles (that is, specific DNA sequences) in a cluster of tightly linked genes on a chromosome that are likely to be inherited together—that is, they are likely to be con ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Mark Daly (scientist)
Mark Joseph Daly is Director of the Finnish Institute for Molecular Medicine (FIMM) at the University of Helsinki, a Professor of Genetics at Harvard Medical School, Chief of the Analytic and Translational Genetic Unit at Massachusetts General Hospital, and a member of the Broad Institute of MIT and Harvard. In the early days of the Human Genome Project, Daly helped develop the genetic model by which linkage disequilibrium could be used to map the haplotype structure of the human genome. In addition, he developed statistical methods to find associations between genes and disorders such as Crohn's disease, inflammatory bowel disease, autism and schizophrenia. Daly is considered a pioneer in the field of human genetics, and is amongst the most cited scientists in the field, and one of the top 100 most cited scientists of all time. He was elected to the National Academy of Medicine in 2017. Education Daly studied physics at MIT, although he initially wanted to become a lawyer o ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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HapMap
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors. The information produced by the project is made freely available for research. The International HapMap Project is a collaboration among researchers at academic centers, non-profit biomedical research groups and private companies in Canada, China (including Hong Kong), Japan, Nigeria, the United Kingdom, and the United States. It officially started with a meeting on October 27 to 29, 2002, and was expected to take about three years. It comprises two phases; the complete data obtained in Phase I were published on 27 October 2005. The analysis of the Phase II dataset was published in October 2007. The Phase III dataset was released in spring 2009 and the publication presenting the final resul ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Bioinformatics Software
The list of bioinformatics software tools can be split up according to the license used: *List of proprietary bioinformatics software *List of open-source bioinformatics software Alternatively, here is a categorization according to the respective bioinformatics subfield specialized on: *Sequence analysis software **List of sequence alignment software ** List of alignment visualization software **Alignment-free sequence analysis **De novo sequence assemblers **List of gene prediction software ** List of disorder prediction software ** List of Protein subcellular localization prediction tools **List of phylogenetics software **List of phylogenetic tree visualization software ** :Metagenomics_software *Structural biology software **List of molecular graphics systems **List of protein-ligand docking software **List of RNA structure prediction software **List of software for protein model error verification **List of protein secondary structure prediction programs **List of protein struct ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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SNPs
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently large fraction of the population (e.g. 1% or more), many publications do not apply such a frequency threshold. For example, at a specific base position in the human genome, the G nucleotide may appear in most individuals, but in a minority of individuals, the position is occupied by an A. This means that there is a SNP at this specific position, and the two possible nucleotide variations – G or A – are said to be the alleles for this specific position. SNPs pinpoint differences in our susceptibility to a wide range of diseases, for example age-related macular degeneration (a common SNP in the CFH gene is associated with increased risk of the disease) or nonalcoholic fatty liver disease (a SNP in the PNPLA3 gene is associated with incre ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Frequency
Frequency is the number of occurrences of a repeating event per unit of time. It is also occasionally referred to as ''temporal frequency'' for clarity, and is distinct from ''angular frequency''. Frequency is measured in hertz (Hz) which is equal to one event per second. The period is the interval of time between events, so the period is the reciprocal of the frequency. For example, if a heart beats at a frequency of 120 times a minute (2 hertz), the period, —the interval at which the beats repeat—is half a second (60 seconds divided by 120 beats). Frequency is an important parameter used in science and engineering to specify the rate of oscillatory and vibratory phenomena, such as mechanical vibrations, audio signals (sound), radio waves, and light. Definitions and units For cyclical phenomena such as oscillations, waves, or for examples of simple harmonic motion, the term ''frequency'' is defined as the number of cycles or vibrations per unit of time. Th ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Massachusetts Institute Of Technology
The Massachusetts Institute of Technology (MIT) is a private land-grant research university in Cambridge, Massachusetts. Established in 1861, MIT has played a key role in the development of modern technology and science, and is one of the most prestigious and highly ranked academic institutions in the world. Founded in response to the increasing industrialization of the United States, MIT adopted a European polytechnic university model and stressed laboratory instruction in applied science and engineering. MIT is one of three private land grant universities in the United States, the others being Cornell University and Tuskegee University. The institute has an urban campus that extends more than a mile (1.6 km) alongside the Charles River, and encompasses a number of major off-campus facilities such as the MIT Lincoln Laboratory, the Bates Center, and the Haystack Observatory, as well as affiliated laboratories such as the Broad and Whitehead Institutes. , 98 ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Harvard
Harvard University is a private Ivy League research university in Cambridge, Massachusetts. Founded in 1636 as Harvard College and named for its first benefactor, the Puritan clergyman John Harvard, it is the oldest institution of higher learning in the United States and one of the most prestigious and highly ranked universities in the world. The university is composed of ten academic faculties plus Harvard Radcliffe Institute. The Faculty of Arts and Sciences offers study in a wide range of undergraduate and graduate academic disciplines, and other faculties offer only graduate degrees, including professional degrees. Harvard has three main campuses: the Cambridge campus centered on Harvard Yard; an adjoining campus immediately across Charles River in the Allston neighborhood of Boston; and the medical campus in Boston's Longwood Medical Area. Harvard's endowment is valued at $50.9 billion, making it the wealthiest academic institution in the world. Endowment inco ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Broad Institute
The Eli and Edythe L. Broad Institute of MIT and Harvard (IPA: , pronunciation respelling: ), often referred to as the Broad Institute, is a biomedical and genomic research center located in Cambridge, Massachusetts, Cambridge, Massachusetts, United States. The institute is independently governed and supported as a 501(c)(3) nonprofit research organization under the name Broad Institute Inc., and it partners with the Massachusetts Institute of Technology, Harvard University, and the five Harvard teaching hospitals. History The Broad Institute evolved from a decade of research collaborations among MIT and Harvard scientists. One cornerstone was the Center for Genome Research of Whitehead Institute at MIT. Founded in 1982, the Whitehead became a major center for genomics and the Human Genome Project. As early as 1995, scientists at the Whitehead started pilot projects in genomic medicine, forming an unofficial collaborative network among young scientists interested in genomic a ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Permutation
In mathematics, a permutation of a set is, loosely speaking, an arrangement of its members into a sequence or linear order, or if the set is already ordered, a rearrangement of its elements. The word "permutation" also refers to the act or process of changing the linear order of an ordered set. Permutations differ from combinations, which are selections of some members of a set regardless of order. For example, written as tuples, there are six permutations of the set , namely (1, 2, 3), (1, 3, 2), (2, 1, 3), (2, 3, 1), (3, 1, 2), and (3, 2, 1). These are all the possible orderings of this three-element set. Anagrams of words whose letters are different are also permutations: the letters are already ordered in the original word, and the anagram is a reordering of the letters. The study of permutations of finite sets is an important topic in the fields of combinatorics and group theory. Permutations are used in almost every branch of mathematics, and in many other fields of scie ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |