VCF quality indicators
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Entering edit mode
4.2 years ago
Martina ▴ 30

Dear colleagues,

If you wanted to be sure that VCF from exome tumour-normal sequencing, focused on somatic variants you got from someone was done properly and you would believe BAM preparation and data quality, what would you check?

I would go for:

  • in baits filter
  • QUAL filter
  • indels in homopolymer
  • amount of reads supporting alt variant
  • % of reads supporting alt variant
  • 0 alt reads in normal tissue control
  • min coverage
  • max coverage (2x median)
  • low complexity regions

Filtering by databases: - ExAC - SIFT - PolyPhen

What would you add? I can't find a list of existing filters anywhere. Do you have some favourite paper where they have done really precise filtering?

Thank you very much, Martina

next-gen snp variant calling normal-tumor WES • 562 views
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