Although structural variation is less explored than single-nucleotide variation, recent studies have shown it to be associated with several human diseases. Three fresh computational methods might help to elucidate this inadequately understood part of our genetic makeup.
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This article has been supported in part by the Croatian Science Foundation under the project Single genome and metagenome assembly (IP-2018-01-5886) and the Genome Institute of Singapore, A*STAR core funding.
The author declares no competing interests.
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Sikic, M. Facilitating genome structural variation analysis. Nat Methods 20, 491–492 (2023). https://doi.org/10.1038/s41592-023-01767-5