Long-read individual-molecule sequencing reveals CRISPR-induced genetic heterogeneity in human ESCs

  • Chongwei Bi (Creator)
  • Lin Wang (Creator)
  • Baolei Yuan (Creator)
  • Xuan Zhou (Creator)
  • Yu Li (Creator)
  • Sheng Wang (Creator)
  • Yuhong Pang (Creator)
  • Xin Gao (Creator)
  • Yanyi Huang (Creator)
  • Mo Li (Creator)
  • Lin Wang (Creator)
  • Yuhong Pang (Creator)
  • Yanyi Huang (Creator)



Abstract Quantifying the genetic heterogeneity of a cell population is essential to understanding of biological systems. We develop a universal method to label individual DNA molecules for single-base-resolution haplotype-resolved quantitative characterization of diverse types of rare variants, with frequency as low as 4 × 10−5, using both short- or long-read sequencing platforms. It provides the first quantitative evidence of persistent nonrandom large structural variants and an increase in single-nucleotide variants at the on-target locus following repair of double-strand breaks induced by CRISPR-Cas9 in human embryonic stem cells.
Date made available2020

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