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From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software
Scientists working with single-nucleotide variants (SNVs), inferred by next-generation sequencing software, often need further information regarding true variants, artifacts and sequence coverage gaps. In clinical diagnostics, e.g. SNVs must usually be validated by visual inspection or several indep...
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| Główni autorzy: | , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Oxford University Press
2013
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3592472/ https://ncbi.nlm.nih.gov/pubmed/22965131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gks836 |
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