NPSV: A simulation-driven approach to genotyping structural variants in whole-genome sequencing data

BACKGROUND: Structural variants (SVs) play a causal role in numerous diseases but are difficult to detect and accurately genotype (determine zygosity) in whole-genome next-generation sequencing data. SV genotypers that assume that the aligned sequencing data uniformly reflect the underlying SV or us...

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Bibliographic Details
Published in:Gigascience
Main Authors: Linderman, Michael D, Paudyal, Crystal, Shakeel, Musab, Kelley, William, Bashir, Ali, Gelb, Bruce D
Format: Artigo
Language:Inglês
Published: Oxford University Press 2021
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Technical Note
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8246072/
https://ncbi.nlm.nih.gov/pubmed/34195837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/gigascience/giab046
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