### Variant Calling This APP developed for germline and somatic short variant discovery (SNVs + Indels). **Accepted Data** * TN matched WES for somatic variant calling * TN matched WGS for somatic variant calling * Normal-only WES for germline variant calling * Normal-only WGS for germline variant calling The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs). --- **Supported Callers** * The fields corresponding to these callers include `haplotyper`, `tnseq`, `tnscope`, `varscan`. * All callers are **not activated by default**, which means the default setting is `false`. * You need to manually set the caller to `true` in the submitted sample.csv. ***Germline*** * Haplotyper ***Somatic*** * TNseq (TNhaplotyper2) * TNscope * VarScan --- **Annotation Tools** * The fields corresponding to two tools include `annovar`, `vep`. * All tools are **not activated by default**, which means the default setting is `false`. * You need to manually set the caller to `true` in the submitted sample.csv. ### New Releases * TNhaplotyper, named as TNseq in `v0.1.0`, has beed substituted by TNhaplotyper2. * The `corealigner` step has been removed. * The `vcf2maf` step has been removed. Thus, the final output is the annotated `VCF`. * Some parameters' details have been changed, such as the `interval_list` has turned into `interval`. ### Getting Started We recommend using choppy system and Aliyun OSS service. The command will look like this: ``` # Activate the choppy environment $ open-choppy-env # Install the APP $ choppy install YaqingLiu/variant-calling [-f] # List the parameters $ choppy samples YaqingLiu/variant-calling-latest [--no-default] # Submit you task with the `samples.csv file` and `project name` $ choppy batch YaqingLiu/variant-calling-latest samples.csv -p Project [-l project:Label] # Query the status of all tasks in the project $ choppy query -L project:Label | grep "status" ``` **Please note:** The `defaults` can be forcibly replaced by the settings in `samples.csv`. Therefore, there is no need to contact me over this issue. The parameters that must need contains: sample_id,normal_fastq_1,normal_fastq_2,tumor_fastq_1,tumor_fastq_2 **Please carefully check** * the reference genome you want to use is hg38 or hg19. * bed file. * the caller you want to use. * PoN VCFs for TNseq and TNscope is supported, but are need to be generated in advance. * interval padding is default 0, and you can change it. * the annotation tool is ANNOVAR or VEP.