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Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads
Linked-read sequencing enables greatly improves haplotype assembly over standard paired-end analysis. The detection of mosaic single-nucleotide variants benefits from haplotype assembly when the model is informed by the mapping between constituent reads and linked reads. Samovar evaluates haplotype-...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609817/ https://www.ncbi.nlm.nih.gov/pubmed/31271967 http://dx.doi.org/10.1016/j.isci.2019.05.037 |