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Duphold: scalable, depth-based annotation and curation of high-confidence structural variant calls
Most structural variant (SV) detection methods use clusters of discordant read-pair and split-read alignments to identify variants yet do not integrate depth of sequence coverage as an additional means to support or refute putative events. Here, we present "duphold," a new method to effici...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6479422/ https://www.ncbi.nlm.nih.gov/pubmed/31222198 http://dx.doi.org/10.1093/gigascience/giz040 |