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CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and

Paco Derouault1, Jasmine Chauzeix2,3, David Rizzo2,3

  • 1CHU Limoges, UF de Bioinformatique, Limoges France.

Plos Computational Biology
|February 13, 2020
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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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