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updated readme
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tobiasrausch committed Dec 17, 2020
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Expand Up @@ -174,14 +174,14 @@ Delly uses GC and mappability fragment correction to call CNVs. This requires a
`Rscript R/cnv.R plot.tsv`


Somatic CNV calling
-------------------
Somatic copy-number alterations (SCNAs)
---------------------------------------

* For somatic CNV calling, delly first segments the tumor genome (`-u` is required). Depending on the coverage, tumor purity and ploidy you can adapt parameters `-z`, `-t` and `-x` which control the sensitivity of CNV detection.
* For somatic copy-number alterations, delly first segments the tumor genome (`-u` is required). Depending on the coverage, tumor purity and heterogeneity you can adapt parameters `-z`, `-t` and `-x` which control the sensitivity of SCNA detection.

`delly cnv -u -z 10000 -t 0.3 -x 3 -o tumor.bcf -c tumor.cov.gz -g hg19.fa -m hg19.map tumor.bam`
`delly cnv -u -z 10000 -o tumor.bcf -c tumor.cov.gz -g hg19.fa -m hg19.map tumor.bam`

* Then these tumor CNVs are genotyped in the control sample (`-u` is required).
* Then these tumor SCNAs are genotyped in the control sample (`-u` is required).

`delly cnv -u -v tumor.bcf -o control.bcf -g hg19.fa -m hg19.map control.bam`

Expand All @@ -193,7 +193,7 @@ Somatic CNV calling

`delly classify -p -f somatic -o somatic.bcf -s samples.tsv tumor_control.bcf`

* Optional: Plot the somatic CNVs using bcftools and R.
* Optional: Plot the SCNAs using bcftools and R.

`bcftools query -s tumor -f "%CHROM\t%POS\t%INFO/END\t%ID\t[%RDCN]\n" somatic.bcf > segmentation.bed`

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