Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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README.md 1.3KB

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  1. ### Variant calling
  2. This APP developed for somatic short variant discovery (SNVs + Indels).
  3. ***Supported callers***
  4. * TNhaplotyper2
  5. * TNscope
  6. * VarScan
  7. * TNhaplotyper (This caller is only available in `v0.1.0` as it is too outdated)
  8. Variant caller can be selected by setting `ture/false` in the submitted sample.csv.
  9. ***Accepted data***
  10. * TN matched WES
  11. * WGS
  12. The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs).
  13. ### New version
  14. * The TNhaplotyper, also named as TNseq in `v0.1.0`, has beed substituted by TNhaplotyper2.
  15. * The `corealigner` step has been removed.
  16. ### How to run this APP
  17. We recommend using choppy system and Aliyun OSS service. The command will look like this:
  18. ```
  19. open-choppy-env
  20. choppy install YaqingLiu/variant-calling-latest
  21. choppy samples YaqingLiu/variant-calling-latest --no-default
  22. # sample_id,normal_fastq_1,normal_fastq_2,tumor_fastq_1,tumor_fastq_2
  23. choppy batch YaqingLiu/variant-calling-latest samples.csv -p Project -l Label
  24. # Query the status of all tasks in the project
  25. choppy query -L Label | grep "status"
  26. ```
  27. **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.
  28. **Please carefully check**
  29. * the reference genome
  30. * bed file
  31. * the caller you want to use
  32. * whether PoN needs to be set