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

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 frequenc...

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Detalles Bibliográficos
Autores principales: Bi, Chongwei, Wang, Lin, Yuan, Baolei, Zhou, Xuan, Li, Yu, Wang, Sheng, Pang, Yuhong, Gao, Xin, Huang, Yanyi, Li, Mo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444080/
https://www.ncbi.nlm.nih.gov/pubmed/32831134
http://dx.doi.org/10.1186/s13059-020-02143-8
Descripción
Sumario: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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