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-...

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Udgivet i:iScience
Main Authors: Darby, Charlotte A., Fitch, James R., Brennan, Patrick J., Kelly, Benjamin J., Bir, Natalie, Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E., Gastier-Foster, Julie M., Wilson, Richard K., Mardis, Elaine R., White, Peter, Langmead, Ben, Schatz, Michael C.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6609817/
https://ncbi.nlm.nih.gov/pubmed/31271967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.isci.2019.05.037
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