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Echtvar: compressed variant representation for rapid annotation and filtering of SNPs and indels
Germline and somatic variants within an individual or cohort are interpreted with information from large cohorts. Annotation with this information becomes a computational bottleneck as population sets grow to terabytes of data. Here, we introduce echtvar, which efficiently encodes population variant...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841399/ https://www.ncbi.nlm.nih.gov/pubmed/36300617 http://dx.doi.org/10.1093/nar/gkac931 |