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View Code? Open in Web Editor NEW:whale: He, Y., Zhang, F., and Flaherty, P, Bioinformatics, 2015. The source code and command line interface for rare variant detection in NGS data is downloaded here.
:whale: He, Y., Zhang, F., and Flaherty, P, Bioinformatics, 2015. The source code and command line interface for rare variant detection in NGS data is downloaded here.
RVD2.7 is an extension of RVD that includes a prior on the position-specific parameters. The model is The position is j = 1,...,J. The replicate is i = 1,...,N. The model only addresses error/reference positions and does not model individual nucleotide frequencies. \mu_j | \mu_0, M_0 ~ Beta(\mu_0, M_0) \theta_{ij} | \mu_j, M_j ~ Beta(\mu_j, M_j) r_{ij} | \theta_{ij}, n_{ij} ~ Binomial(\theta_{ij}, n_{ij}) where n_{ij} is the total counts at position j in replicate i. The error read count at position j in replicate i is modeled by the binomial random variable r_{ij}. The probability of an error at position j in replicate i is \theta_{ij}. The error probability has a prior beta distribution with position-specific rate parameter \mu_j and precision M_j. The position error rate, \mu_j, has as a Beta prior distribution with parameters \mu_0 and M_0. This is to ensure that that error rate is between 0 and 1. The precision parameter M_j has an improper prior. This is useful for situations when there is a significant minor allele. Citation: He, Y., Zhang, F., and Flaherty, P. RVD2: an ultra-sensitive variant detection model for low-depth heterogeneous next-generation sequencing data. Bioinformatics, 31(17), 2785-2793, 2015
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