Facilitating genome structural variation analysis

Nature Methods(2023)

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摘要
lthough 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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关键词
Computational models,Genome informatics,Genomics,Software,Structural variation,Life Sciences,general,Biological Techniques,Biological Microscopy,Biomedical Engineering/Biotechnology,Bioinformatics,Proteomics
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