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Sensitive alignment using paralogous sequence variants improves long-read mapping and variant calling in segmental duplications
The ability to characterize repetitive regions of the human genome is limited by the read lengths of short-read sequencing technologies. Although long-read sequencing technologies such as Pacific Biosciences (PacBio) and Oxford Nanopore Technologies can potentially overcome this limitation, long seg...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7641771/ https://www.ncbi.nlm.nih.gov/pubmed/33035301 http://dx.doi.org/10.1093/nar/gkaa829 |