The variants question: What is the problem?

Davide Zella1, Marta Giovanetti2,3, Francesca Benedetti1

  • 1Department of Biochemistry and Molecular Biology, Institute of Human Virology and Global Virus Network Center, University of Maryland School of Medicine, Baltimore, Maryland, USA.

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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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What is Variation?

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