Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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4 年之前
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  1. #### Introduction
  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 * TNhaplotyper (This caller is only available in `v0.1.0` as it is too outdated)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. Types of data that can be received:
  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. **Please carefully check**
  17. * the reference genome
  18. * bed file
  19. * the caller you want to use
  20. * whether PoN needs to be set
  21. #### How to run this APP
  22. We recommend using choppy system and Aliyun OSS service. The command will look like this:
  23. ```
  24. open-choppy-env
  25. choppy install YaqingLiu/variant-calling-latest
  26. choppy samples YaqingLiu/variant-calling-latest --no-default
  27. # sample_id,normal_fastq_1,normal_fastq_2,tumor_fastq_1,tumor_fastq_2
  28. choppy batch YaqingLiu/variant-calling-latest samples.csv -p Project -l Label
  29. # Query the status of all tasks in the project
  30. choppy query -L Label | grep "status"
  31. ```
  32. **Please note**
  33. The `defaults` can be forcibly replaced by the settings in `samples.csv`.
  34. Therefore, there is no need to contact me over this issue.