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  2. Single-nucleotide polymorphism - Wikipedia

    en.wikipedia.org/wiki/Single-nucleotide_polymorphism

    For example, two common SNPs in the APOE gene, rs429358 and rs7412, lead to three major APO-E alleles with different associated risks for development of Alzheimer's disease and age at onset of the disease. [7] Single nucleotide substitutions with an allele frequency of less than 1% are sometimes called single-nucleotide variants (SNVs). [8] "

  3. 5-HTTLPR - Wikipedia

    en.wikipedia.org/wiki/5-HTTLPR

    Researchers commonly report it with two variations in humans: A short ("s") and a long ("l"), but it can be subdivided further. [4] The short (s)- and long (l)- alleles have been thought to be related to stress and psychiatric disorders. [5] In connection with the region are two single nucleotide polymorphisms (SNP): rs25531 and rs25532. [6]

  4. SNP array - Wikipedia

    en.wikipedia.org/wiki/SNP_array

    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 , [ 1 ] 15 million of which are present at frequencies of 1% or higher across different populations worldwide.

  5. Gene polymorphism - Wikipedia

    en.wikipedia.org/wiki/Gene_polymorphism

    There have been a number of studies looking into various polymorphisms of asthma-associated genes and how those polymorphisms interact with the carrier's environment. One example is the gene CD14, which is known to have a polymorphism that is associated with increased amounts of CD14 protein as well as reduced levels of IgE serum. [30]

  6. SNP genotyping - Wikipedia

    en.wikipedia.org/wiki/SNP_genotyping

    The last base of the Invader oligonucleotide is a non-matching base that overlaps the SNP nucleotide in the target DNA. The second probe is an allele-specific probe which is complementary to the 5’ end of the target DNA, but also extends past the 3’ side of the SNP nucleotide.

  7. Genetic marker - Wikipedia

    en.wikipedia.org/wiki/Genetic_marker

    It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (single nucleotide polymorphism, SNP), or a long one, like minisatellites.

  8. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    The study concluded that twelve percent of the genome contained CNVRs. They were found to be involved in more of the DNA in each genome than single nucleotide polymorphisms. [6] This was a remarkable discovery since single nucleotide polymorphisms have been known to be the greatest in number in the human genome.

  9. Ancestry-informative marker - Wikipedia

    en.wikipedia.org/wiki/Ancestry-informative_marker

    A single-nucleotide polymorphism is a modification of a single nucleotide base within a DNA sequence. [1] There are an estimated 15 million SNP ( Single-nucleotide polymorphism ) sites (out of roughly 3 billion base pairs, or about 0.4%) from among which AIMs may potentially be selected. [ 2 ]