diff --git a/README.md b/README.md index 3c829290620d0f15a60aae2dbd5599351fae3567..8af551f7a936902055626f83d754c9602eb4b5d6 100644 --- a/README.md +++ b/README.md @@ -15,17 +15,17 @@ Preliminary SV calling using Strand-seq data - summarized in a [Snakemake](https source("https://bioconductor.org/biocLite.R") biocLite('BSgenome.Hsapiens.UCSC.hg38') ``` - * [Strand-Phaser](https://github.com/daewoooo/StrandPhaseR) is installed automagically + * [Strand-Phaser](https://github.com/daewoooo/StrandPhaseR) is installed automatically 2. **Set up the configuration of the smakemake pipeline** * Open `Snake.config.json` and specify the path to the executatables (such as Mosaicatcher) and to the R scripts. * Create a subdirectory `bam/` and another subdirectory per sample (e.g. - `bam/NA12878`). **Multiple samples can be run together not**. + `bam/NA12878/`). **Multiple samples can be run together not**. Then copy (or soft-link) the Strand-seq single-cell libraries (one BAM - file per cell) in there. Note that bam files need to contain a read group - and should have duplicates marked. + file per cell) in there. Note that bam files need to be sorted and indexed, + contain a read group and should have duplicates marked. 3. **Run Snakemake** @@ -37,3 +37,16 @@ Preliminary SV calling using Strand-seq data - summarized in a [Snakemake](https --cluster-config Snake.cluster.json \ --cluster "???" ``` + +### SNV calls + + The pipeline will run simple SNV calling using [samtools](https://github.com/samtools/samtools) + and [bcftools](https://github.com/samtools/bcftools). If you **already have + SNV calls**, you can avoid that by entering your VCF files into the pipeline. + To so, make sure the files are [tabix](https://github.com/samtools/tabix)-indexed + and specifigy them inside the `Snake.config.json` file: + ``` + "snv_calls" : { + "NA12878" : "path/to/snp/calls.vcf.gz" + }, + ``` diff --git a/Snakefile b/Snakefile index 1d581459493037340a68526b0cdb2291719ac96e..12a44807e4373ab30212bad7b3322f2e07a7c752 100644 --- a/Snakefile +++ b/Snakefile @@ -422,7 +422,8 @@ rule merge_SNV_calls: rule split_external_snv_calls: input: - vcf = lambda wc: config["snv_calls"][wc.sample] + vcf = lambda wc: config["snv_calls"][wc.sample], + tbi = lambda wc: config["snv_calls"][wc.sample] + ".tbi" output: vcf = "external_snv_calls/{sample}/{chrom}.vcf" log: "log/{sample}/external_snv_calls.{chrom}.vcf.log"