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Updated: Jun 24, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Methods to detect and analyze copy number variations at the genome-wide and locus-specific levels

J H Lee1, J T Jeon

  • 1Division of Animal Science and Resources, College of Agriculture and Life Sciences, Chungnam National University, Daejeon, Korea. jtjeon@gnu.ac.kr

Cytogenetic and Genome Research
|March 17, 2009
PubMed

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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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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