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Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
PURPOSE: Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here we investigated the utility of long-read sequencing in resolving germline SVs in cancer susceptibility genes detected through...
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| Pubblicato in: | Genet Med |
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| Autori principali: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group US
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7605438/ https://ncbi.nlm.nih.gov/pubmed/32624572 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0880-8 |
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