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Merge branch 'beta_test' into HEAD
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nr23730 committed Feb 28, 2022
2 parents f431740 + 951e277 commit b72b6f6
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6 changes: 6 additions & 0 deletions .gitmodules
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[submodule "tools/cnvkit"]
path = tools/cnvkit
url = https://github.com/etal/cnvkit.git
[submodule "tools/msisensor2"]
path = tools/msisensor2
url = https://github.com/niu-lab/msisensor2.git
[submodule "tools/msisensor-pro"]
path = tools/msisensor-pro
url = https://github.com/xjtu-omics/msisensor-pro
9 changes: 9 additions & 0 deletions CHANGELOG.md
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# Changelog

## Release v4.0.0

* Integration of Mutect2 (GATK4) for tumorOnly and Panel variant calling
* Analysis of the TSO500 panel handels of the DNA and RNA part of the panel
* Calcualtion of various complex biomarkers like TMB, MSI, HRD,
* Calcualtion of more QC metrics, e.g. bioinformatic tumor cell content (purity)
* Various bugfixes
* Adjustments of the PDF report mainly structure and readability

## Release v3.1.0

* Updated ClinVar version to clinvar_20210123; re-run of ./setup.sh -t setup_tools from the MIRACUM-Pipe-docker repository recommended or manual installation of the updated annovar databases:
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25 changes: 25 additions & 0 deletions RScripts/HRD.R
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library(scarHRD)
library(sequenza)

args <- commandArgs()
ID <- args[6]
path <- args[7]

print(args)
print(ID)
print(path)
setwd(path)
getwd()

input_file <- paste0(path, "/", ID, ".small.seqz.gz")
print(input_file)
# Determine the HRD-Score
result <- scar_score(input_file, reference = "grch37", seqz = TRUE)
write.table(x = result, file = paste0(path, "/", ID, "_HRD.txt"))
# CNV analysis of SEQUENZA to determine tumor purity and ploidy
extr <- sequenza.extract(input_file, verbose = FALSE)
cp <- sequenza.fit(extr)
sequenza.results(
sequenza.extract = extr, cp.table = cp, sample.id = ID,
out.dir = paste0(path, "/", ID, "_sequenza")
)
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