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Diego A Martinez1, Jeremiah S Hinson1, Eili Y Klein1

  • 1Department of Emergency Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

JAMA
|June 20, 2020
PubMed
概括

No abstract available in PubMed .

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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