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In 2018, researchers were able to associate a mitochondrial complex I deficiency with a mutation in NDUFA6 using GeneMatcher. The service allowed them to locate 3 of 4 patients with the condition and mutation. [18] [19] In 2019, GeneMatcher allowed researchers to link DEGS1 to an autosomal recessive hypomyelinating leukodystrophy. They had ...
dbSNP is an online resource implemented to aid biology researchers. Its goal is to act as a single database that contains all identified genetic variation, which can be used to investigate a wide variety of genetically based natural phenomena.
The following requirements apply to all mutation operators used in an EA: [2] [3] every point in the search space must be reachable by one or more mutations. there must be no preference for parts or directions in the search space (no drift). small mutations should be more probable than large ones.
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BA.2.86 was first reported by Denmark and Israel. [1] [11] On 18 August 2023, when only six cases had been reported from four countries (Denmark, Israel, the United Kingdom and the United States), the British healthcare authorities noted that its almost simultaneous appearance in several countries still operating detailed genomic surveillance indicated that it likely already was spreading more ...
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SNPedia (pronounced "snipedia") is a wiki-based bioinformatics web site that serves as a database of single nucleotide polymorphisms (SNPs). Each article on a SNP provides a short description, links to scientific articles and personal genomics web sites, as well as microarray information about that SNP.