Visualizing SNVs to quantify allele-specific expression in single cells

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Dissection of Adult Mouse Stria Vascularis for Single-Nucleus Sequencing or Immunostaining
08:51

Dissection of Adult Mouse Stria Vascularis for Single-Nucleus Sequencing or Immunostaining

Published on: April 21, 2023

Marshall J Levesque1, Paul Ginart, Yichen Wei

  • 1Department of Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA. MCMartin@lbl.gov

Nature Methods
|August 6, 2013
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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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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,...