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Updated: Aug 26, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG

Yu-Chen Lin1, Yi-Han Chang2, Frank Po-Chao Chiu3

  • 1Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; International Center for Wound Repair and Regeneration (iWRR), National Cheng Kung University, Tainan, Taiwan.

Journal of Dermatological Science
|October 9, 2022
PubMed
Abstract

No abstract available in PubMed .

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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