We functionally assessed clinically observed mutations of the BRCA2 gene and analysed structure–function relationships of variants of the gene by using high-throughput CRISPR-mediated mutagenesis and pooled screening in locally haploid human pluripotent stem cells and in fibroblasts differentiated from them.
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This is a summary of: Li, H. et al. Functional annotation of variants of the BRCA2 gene via locally haploid human pluripotent stem cells. Nat. Biomed. Eng. https://doi.org/10.1038/s41551-023-01065-7 (2023).
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Stem-cell-based functional genomics for the large-scale analysis of genetic variants. Nat. Biomed. Eng 8, 114–115 (2024). https://doi.org/10.1038/s41551-023-01066-6
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DOI: https://doi.org/10.1038/s41551-023-01066-6
