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Updated: Oct 1, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

Distribution of germline BAT-40 poly-adenine tract microsatellite variants in the Japanese

H Yokozaki1

  • 1First Department of Pathology, Hiroshima University School of Medicine, Minami-ku, Hiroshima 734-8551, Japan. hyoko@mcai.med.hiroshima-u.ac.jp

International Journal of Molecular Medicine
|September 22, 2000
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,...