Analysis of cell and nucleus genome by next-generation sequencing

Ji Won Oh, Alexej Abyzov

Research output: Chapter in Book/Report/Conference proceedingChapter


Genomic variants that are acquired during a lifetime as a result of development, environmental exposure, and aging are present in every cell of the human body. While some variants are shared between cells, most of them are not. Therefore, analyzing the nuclear genome of a cell is the ultimate way to study genomic mosaicism. However, comprehensive evaluation of variations in a single cell's genome is not yet possible due to unresolved technical issues, while the analysis of a bulk of cells can provide a valuable insight into mosaicism in a studied sample. Here, we describe, compare, and discuss strategies, experimental techniques, and analytical methods for discovery of a spectrum of mosaic variants from a bulk of cells and from single cells. We specifically focus on next-generation sequencing technologies for genome analysis as they enable the discovery of mosaic variants of all types.

Original languageEnglish (US)
Title of host publicationHuman Interphase Chromosomes
Subtitle of host publicationBiomedical Aspects
PublisherSpringer International Publishing
Number of pages31
ISBN (Electronic)9783030625320
ISBN (Print)9783030625313
StatePublished - Jan 29 2021


  • Copy number variation (CNV)
  • Genome variation
  • Insertion or deletion (Indel)
  • Lineage tracing
  • Mobile element insertion (MEI)
  • Mosaic mutation
  • Mosaic variant
  • Mosaicism
  • Next-generation sequencing
  • Single nucleotide variation (SNV)
  • Single-cell genome
  • Somatic variant
  • Structural variation (SV)
  • Whole-genome amplification (WGA)

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology


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