imgag/megSAP

Implement trio/multi

Closed this issue · 9 comments

Implement trio/multi

Sniffles has trio mode: link

  • implement
  • adapt annotation
  • test

Clair3 has a trio version: Clair3-Trio
- [ ] test
- [ ] implement

rejected do to long runtime

test data:
- S:\projects\research\21073N_SEQ418081722_trio\Sample_21073LRa013 - Sample_21073LRa015

Clair3 first results:

  • takes very long (aborted after 5 Days with 4 threads)
  • very high memory usage
  • test new version with memory leak fix (not available via docker yet)

Test with GATK combineGVCF

First test seems to work:

  • implement php script to use
  • add genotype calling
  • add post-processing
  • add multithreading
  • implement in pipeline
  • implement pipline tests
    • trio
    • multi
  • validate
  • integrate in GSvar
  • run trios/multis from Joo
  • fix bug in merge_gvcf.php