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

Authors
  • Bi, Chongwei1
  • Wang, Lin1, 2
  • Yuan, Baolei1
  • Zhou, Xuan1
  • Li, Yu3
  • Wang, Sheng3
  • Pang, Yuhong4
  • Gao, Xin3
  • Huang, Yanyi4, 5
  • Li, Mo1
  • 1 King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia , Thuwal (Saudi Arabia)
  • 2 Jilin University, Changchun, China , Changchun (China)
  • 3 King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia , Thuwal (Saudi Arabia)
  • 4 Peking University, Beijing, China , Beijing (China)
  • 5 Shenzhen Bay Laboratory, Shenzhen, China , Shenzhen (China)
Type
Published Article
Publication Date
Aug 24, 2020
Volume
21
Issue
1
Identifiers
DOI: 10.1186/s13059-020-02143-8
Source
Springer Nature
Keywords
License
Green

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.

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