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Facilitating genome structural variation analysis

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NATURE METHODS
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NATURE PORTFOLIO
DOI: 10.1038/s41592-023-01767-5

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Although less studied, structural variation has been found to be linked to several human diseases. Three novel computational methods may provide insights into this poorly understood aspect of our genetic makeup.
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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