April 1, 2024Open Access

High-throughput screening of human genetic variants by pooled prime editing

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Authors

MHMichael HergerThe Francis Crick Institute CKChristina M. KajbaThe Francis Crick Institute MBMegan BuckleyThe Francis Crick Institute

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Implication

Experimental study demonstrates high-throughput functional assessment of genetic variants in haploid human cells, highlighting its potential for scalable variant interpretation.

Key Points

Pooled prime editing accurately profiles human genetic variants in their endogenous genomic context, effectively distinguishing loss-of-function variants in human cells.
Assaying 65.3% of all possible single nucleotide variants across MLH1 exon 10 enabled robust discrimination of loss-of-function variants through targeted 6-thioguanine selection.
High-throughput screening using optimized pegRNA libraries in haploid human cells enables variant profiling; cell model requires further validation in diverse cell types.

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Herger et al. (2024) studied this question.

synapsesocial.com/papers/68e70efbb6db643587688826 https://doi.org/10.1101/2024.04.01.587366

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Implication

Experimental study demonstrates high-throughput functional assessment of genetic variants in haploid human cells, highlighting its potential for scalable variant interpretation.

High-throughput screening of human genetic variants by pooled prime editing

Discussion

Member takes

Implication

Key Points

Cite This Study

High-throughput screening of human genetic variants by pooled prime editing

Discussion

Member takes

Implication

Key Points

Cite This Study

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