Multiplex generation and single-cell analysis of structural variants in mammalian genomes.

GENETIC variation; HUMAN embryonic stem cells; GENE expression; WHOLE genome sequencing; EXTRACHROMOSOMAL DNA; RECOMBINASES

The article in the journal "Science" introduces a method called Genome-Shuffle-seq, which allows for the generation and analysis of structural variants (SVs) in mammalian genomes, including deletions, inversions, translocations, and extrachromosomal DNA circles. By using barcoded shuffle cassettes and site-specific recombinases, researchers were able to map and characterize hundreds to thousands of SVs in mouse embryonic stem cells and human cancer cells. This method enables the study of SVs' functional consequences on gene expression, fitness, and chromatin state, potentially aiding in understanding human phenotypes and mammalian genome architecture. [Extracted from the article]

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