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anor's Introduction

clindet

clindet is a fully automated multi-omics data analysis pipeline based on Snakemake and singularity. This pipeline enables the analysis of multi-omics data from thousands of patients in cancer cohorts. It can analyze whole-genome, whole-exome, and transcriptome data, and perform commonly used clinical tasks such as gene mutation detection, structural and copy number variation detection, and transcript quantification and fusion gene detection analysis.

Todo

  • scRNA-seq, scATAC-seq analysis workflow
  • Mutational signature analysis, driver genes detection,...
  • human T2T genome reference support
  • ......

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anor's Issues

license code download

Hello,
the link provided for license code applying is not working
How can I ask the license code?

Thank you!

Difficult to understand documentation with regard to sqlite databases

I am trying to annotate some variants using the exac_03 database. I retrieved it using download.database(), but it retrieved the following database: hg19_exac03.sqlite.sql. It's now in my "annovar/humandb" directory.

When I try x <- annotation(dat = dat, anno.name = "exac03", database.dir = "annovar/humandb", db.type = "sqlite")
I get the following error:

Error in dbname.initial(anno.name, dbname.fixed, setdb.fun, buildver,  : 
  annovar/humandb/hg19_exac03.sqlite sqlite format database dose not exist.

Is there a step I am missing between retrieving the db and running annotation? Thanks!

known data.table fread limitation

In fread function, the skip parameter can't to input > 2500000000. If the database file > 2500000000 lines, you need to split the raw database file.

For example:

/usr/bin/split -l 2499999999 hg19_eigen.txt hg19_eigen.txt_split
# if you have been write 2499999999 in sqlite file, you can start from "ab"
for( i in c("aa", "ab", "ac", "ad")) {
  system(sprintf("mv hg19_eigen.txt_split%s hg19_eigen.txt", i))
  new.colnames <- c("#Chr", "Start", "End", "Ref", "Alt", "Eigen")
  annovarR::sqlite.auto.build('eigen', database.dir = './', append = TRUE, new.colnames = new.colnames)
  system(sprintf("mv hg19_eigen.txt hg19_eigen.txt_split%s", i))
}

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