Full characterization of unresolved structural variation through long-read sequencing and optical ge...
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Structural variants (SVs) are important contributors to human disease. Their characterization remains however difficult due to their size and association with repetitive regions. Long-read sequencing (LRS) and optical genome mapping (OGM) can aid as their molecules span multiple kilobases and capture SVs in full. In this study, we selected six indi...
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Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
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TN_cdi_doaj_primary_oai_doaj_org_article_ddf31f2fa73e4d6bbc89654922dff66c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ddf31f2fa73e4d6bbc89654922dff66c
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-024-80068-z
