DeCODEme
deCODE genetics ( is, Íslensk erfðagreining) is a biopharmaceutical company based in Reykjavík, Iceland. The company was founded in 1996 by Kári Stefánsson with the aim of using population genetics studies to identify variations in the human genome associated with common diseases, and to apply these discoveries "to develop novel methods to identify, treat and prevent diseases." As of 2019, more than two-thirds of the adult population of Iceland was participating in the company's research efforts, and this "population approach" serves as a model for large-scale precision medicine and national genome projects around the world. deCODE is probably best known for its discoveries in human genetics, published in major scientific journals and widely reported in the international media. But it has also made pioneering contributions to the realization of precision medicine more broadly, through public engagement in large-scale scientific research; the development of DNA-based disease ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Kári Stefánsson
Kári Stefánsson (or Kari Stefansson; born 6 April 1949) is an Icelandic neurologist and founder and CEO of Reykjavik-based biopharmaceutical company deCODE genetics. In Iceland he has pioneered the use of population-scale genetics to understand variation in the sequence of the human genome. His work has focused on how genomic diversity is generated and on the discovery of sequence variants impacting susceptibility to common diseases. This population approach has served as a model for national genome projects around the world and contributed to the realization of several aspects of precision medicine. Biography Kari Stefansson was born in 1949 in Reykjavik, Iceland. He was the second youngest of the five children of Sólveig Halldórsdóttir and Stefán Jónsson, a radio personality, writer and democratic socialist member of parliament. He completed his secondary education at Reykjavik Junior College and received his M.D. in 1976 and his Dr. med. in 1986 from the Universi ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Microsatellite
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists. Microsatellites and their longer cousins, the minisatellites, together are classified as VNTR (variable number of tandem repeats) DNA. The name "satellite" DNA refers to the early observation that centrifugation of genomic DNA in a test tube separates a prominent layer of bulk DNA from accompanying "satellite" layers of repetitive DNA. They are widely used for DNA profiling in cancer diagnosis, in kinship analysis (especially paternity testing) and in forensic identific ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Genome-wide Association Study
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease. These participants may be people with a disease (cases) and similar people without the disease (controls), or they may be people with different phenotypes for a particular trait, for example blood pressure. This approach is known as phenotype-first, in which the participants are classified first by their clinical manifestation(s), as oppose ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Nature Genetics
''Nature Genetics'' is a peer-reviewed scientific journal published by Nature Portfolio. It was established in 1992. It covers research in genetics. The chief editor is Tiago Faial. The journal encompasses genetic and functional genomic studies on human traits and on other model organisms, including mouse, fly, nematode and yeast. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. According to the ''Journal Citation Reports'', the journal has a 2021 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as ... of 41.379, ranking it 2nd out of 175 journals in the category "Genetics & Heredity". References External links Official websit ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Single-nucleotide Polymorphism
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 inc ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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SNP Array
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome, 15 million of which are present at frequencies of 1% or higher across different populations worldwide. Principles The basic principles of SNP array are the same as the DNA microarray. These are the convergence of DNA hybridization, fluorescence microscopy, and solid surface DNA capture. The three mandatory components of the SNP arrays are: # An array containing immobilized allele-specific oligonucleotide (ASO) probes. # Fragmented nucleic acid sequences of target, labelled with fluorescent dyes. # A detection system that records and interprets the hybridization signal. The ASO probes are often chosen based on sequencing of a representative panel of individuals: posit ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Identity By Descent
A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment. Theory All individuals in a finite population are related if traced back long enough and will, therefore, share segments of their genomes IBD. During meiosis segments of IBD are broken up by recombination. Therefore, the expected length of an IBD segment depends on the number of generations since the most recent common ancestor at the locus of the segment. The length of IBD segments that result from a common ancestor ''n'' generations in ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Microsatellite
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from one to six or more base pairs) are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists. Microsatellites and their longer cousins, the minisatellites, together are classified as VNTR (variable number of tandem repeats) DNA. The name "satellite" DNA refers to the early observation that centrifugation of genomic DNA in a test tube separates a prominent layer of bulk DNA from accompanying "satellite" layers of repetitive DNA. They are widely used for DNA profiling in cancer diagnosis, in kinship analysis (especially paternity testing) and in forensic identific ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Íslendingabók (genealogical Database)
Íslendingabók (, literally 'book of Icelanders') is a database created by the biotechnology company deCODE genetics and Friðrik Skúlason, attempting to record the genealogy of all Icelanders who have ever lived, where sources are available. Íslendingabók takes its name from the first history of Iceland, by Ari the Wise. History Genealogy has been a pastime of Icelanders for centuries, with its roots in medieval political agenda. Texts from early ages of Icelandic history, containing genealogical information, have survived into the modern age and scholars and enthusiasts have maintained the genealogy knowledge through the ages. In early 1988, Friðrik Skúlason marketed a software program for registering family information and started to compile a database of Icelandic genealogy with the aim to register all available Icelandic genealogy information. In 1997, deCODE genetics and Mr. Skúlason entered into an agreement to speed up the compilation of the database and to enable d ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Icelandic Census Of 1703
The Icelandic census of 1703 was the first census ( is, manntal) of Iceland and the oldest complete census of any country that has survived. It was listed in UNESCO's Memory of the World Register in 2013. Procedure of the census The census recorded the name, age, residence, and social standing of every inhabitant; it was the first such complete census.Gunnar Karlsson, ''The History of Iceland'', Minneapolis: University of Minnesota, 2000, p. 162 Those without fixed address were recorded under the place where they spent the night before Easter.Richard F. Tomasson, ''Iceland, the First New Society'', Minneapolis: University of Minnesota, 1980, p. 72 The census was assembled and organized by two Icelanders, Árni Magnússon, who had just been appointed a professor at the University of Copenhagen, and Páll Vídalín, sheriff and vice-lawman. They were commissioned in 1702 by King Frederick IV of Denmark to perform a complete survey of Iceland, then a Danish possession, in order to in ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |