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bioRxiv · 10.1101/2020.02.10.942151

Long-read Individual-molecule Sequencing Reveals CRISPR-induced Genetic Heterogeneity in Human ESCs

Bi, C.·Wang, L.·Yuan, B.·Zhou, X.·Li, Y.·Wang, S.·Pang, Y.·Gao, X.·Huang, Y.·Li, M.
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Abstract

Accurately 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 analyzing diverse types of rare genetic variants, with frequency as low as 4x10-5, using short- or long-read sequencing. It enables base-resolution haplotype-resolved quantitative characterization of rare variants. It provides the first quantitative evidence of persistent nonrandom large deletions and insertions following DNA repair of double-strand breaks induced by CRISPR-Cas9 in human pluripotent stem cells.

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Bi, C., Wang, L., Yuan, B., Zhou, X., Li, Y., Wang, S., Pang, Y., Gao, X., Huang, Y., Li, M.. 2020-02-11. Long-read Individual-molecule Sequencing Reveals CRISPR-induced Genetic Heterogeneity in Human ESCs. https://doi.org/10.1101/2020.02.10.942151

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