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

Chongwei Bi, Lin Wang, Baolei Yuan, Xuan Zhou, Yu Li, sheng wang, Yuhong Pang, Xin Gao, Yanyi Huang, Mo Li

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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 singlenucleotide variants at the on-target locus following repair of double-strand breaks induced by CRISPR-Cas9 in human embryonic stem cells.
Original languageEnglish (US)
JournalGenome biology
Volume21
Issue number1
DOIs
StatePublished - Aug 24 2020

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