Genome STRiP documentation
Documentation Index
General Documentation
Genome STRiP Overview
Introduction to the Genome STRiP software.
Reference Metadata Bundles
Data bundles for commonly used reference genomes, needed for using Genome STRiP.
Queue Workflow Engine
General information on the Queue workflow engine and how to run Queue scripts.
CNV Pipeline Overview
Architecture of the Genome STRiP 2.0 CNV pipeline.
LCNV Discovery Pipeline Overview
Architecture of the Genome STRiP 2.0 large/somatic CNV pipeline.
Pipelines (Queue Scripts)
QCommandLine
The command line interface to Queue and a description of the common pipeline arguments.
SVPreprocess
The SVPreprocess Queue script performs common processing steps on the input data that are required for all other Genome STRiP pipelines.
SVDiscovery
The SVDiscovery Queue script implements the original Genome STRiP deletion discovery pipeline.
SVGenotyper
The SVGenotyper Queue script supports genotyping of structural variant sites.
CNVDiscoveryPipeline
The CNVDiscoveryPipeline is a Queue script for CNV discovery and genotyping.
LCNVDiscoveryPipeline
The LCNVDiscoveryPipeline is a Queue script for detecting large/mosaic CNVs from read depth.
Variant Annotation
SVAnnotator
Annotation engine and framework for SV annotation.
Variant Annotators
AlleleFrequencyAnnotator
Annotator that calculates summary statistics on population allele frequency and Hardy-Weinberg equilibrium.
ClusterSeparationAnnotator
Annotator that reports on the separation of read depth clusters used in genotyping.
CopyNumberClassAnnotator
Annotator that report statistics about the distribution of copy number states at each variant.
GCContentAnnotator
Annotator that calculates local GC content for structual variants.
GeneOverlapAnnotator
Annotator used to detect and report overlaps between structural variations and annotated genes.
IntensityRankSumAnnotator
Annotator for performing "in silico" validation of copy number variants using SNP array intensity data.
NonVariantAnnotator
Annotator used to detect and filter sites that are likely not polymorphic in the genotyped population.
ReciprocalOverlapAnnotator
Annotator for computing reciprocal overlap between sets of structural variants.
RedundancyAnnotator
Annotator used to detect and filter redundant structural variation calls with similar coordinates.
TagVariantsAnnotator
Annotator that evaluates tagging SNPs (or other markers) based on pairwise r2.
VariantsPerSampleAnnotator
Annotator that reports on the distribution of variant calls across samples.
Utilities
GenerateCNVHaplotypes
Combine multiple CNV sites into longer structural haplotypes based on composite genotype likelihoods.
GenerateHaploidCNVGenotypes
Generate genotype likelihoods for inferred copy number alleles based on diploid copy number likelihoods.
PlotGenotypingResults
Make plots to visualize the genotyping data for individual variants.
Spiderplot
Make haplotype spider plots for phased variants.
GenerateDepthProfiles
Utility Queue script used to prepare data for the LCNV discovery pipeline.