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deepSNV

Description

This package provides provides a quantitative variant callers for detecting subclonal mutations in ultra-deep (>=100x coverage) sequencing experiments. The deepSNV algorithm is used for a comparative setup with a control experiment of the same loci and uses a beta-binomial model and a likelihood ratio test to discriminate sequencing errors and subclonal SNVs. The new shearwater algorithm (beta) computes a Bayes classifier based on a beta- binomial model for variant calling with multiple samples for precisely estimating model parameters such as local error rates and dispersion and prior knowledge, e.g. from variation data bases such as COSMIC.

Note

This repository contains the current development snapshot of the deepSNV package in the folder deepSNV. It is not guaranteed to work all times.

Installation

The good way

For unexperienced users it is recommended to use package as provided in bioconductor. Please follow the instructions at: http://master.bioconductor.org/packages/devel/bioc/html/deepSNV.html

The bad way

You can use devtools::github_install() to install from this repository. For advanced users.

> library(devtools); install_github("mg14/deepSNV")

The ugly way

To install this development snapshot of deepSNV, check out the repository and run

$ make install

Note that this will not install the necessary dependencies.

Previous (running) builds can be found in builds. These will also be mirrored to the bioconductor development branch.

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Version

Version

1.18.3

License

GPL-3

Issues

Pull Requests

Stars

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Maintainer

Moritz Gerstung

Last Published

February 15th, 2017

Functions in deepSNV (1.18.3)

bam2R

Read nucleotide counts from a .bam file
deepSNV-class

deepSNV class.
normalize

Normalize nucleotide counts.
pbetabinom

Cumulative beta-binomial probability distribution
pi

Example prior
RF

Relative frequencies.
loadAllData

Function to load all data from a list of bam files
estimateDirichlet

Learn a base-specific Dirichlet prior.
repeatMask

Mask homopolymeric repeats.
plot.deepSNV

Scatter plot of relative nucleotide frequencies.
consensusSequence

Calculate the consensus sequence.
RCC

Example RCC data
counts

Example count table
trueSNVs

Example .bam data and true SNVs.
manhattanPlot

Manhattan plot.
estimateDispersion

Estimate the Dispersion factor in a beta-binomial model.
phiX

Example phiX data
deepSNV

Test two matched deep sequencing experiments for low-frequency SNVs.
qvals2Vcf

Function to create a VCF object with variant calls from an array of q-values.
makePrior

Compute a prior from a COSMIC VCF object
show,deepSNV-method

Show method for deepSNV objects
mcChunk

Little helper function to split the count objects into a smaller digestible chunks and run function FUN on each subset
control

Get control counts
Extract

Subsetting for deepSNV objects.
dbetabinom

Beta-binomial probability distribution
bf2Vcf

Function to create a VCF object with variant calls from an array of Bayes factors.
estimateRho

Helper function for estimating the dispersion factor rho
summary

Summary of a deepSNV object
coordinates

Get coordinates
betabinLRT

ShearwaterML
p.combine

Combine two p-values
p.val

Get p-values
bbb

Bayesian beta-binomal test, codename shearwater
test

Get test counts
deepSNV-package

Detection of subclonal SNVs in deep sequencing experiments