lh3 / dipcall

Reference-based variant calling pipeline for a pair of phased haplotype assemblies
MIT License
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Interpretation of dipcall vcf file #13

Closed nirvana693 closed 1 year ago

nirvana693 commented 1 year ago

Dear @lh3, Thank you for great tools.

I have phased human genome (using trio data) assembly generated from hifiasm. I have generated dipcall results by aligning hap1 and hap2 assemblies to CHM13 genome. Below are the results of filter column-

5134326 .
   5318 DIPY
 144669 GAP1
    548 GAP1;DIPY
  14048 GAP1;HET2
 159554 GAP2
  48065 HET1
  87672 HET1;GAP2
  17434 HET1;HET2
  34374 HET2

May I know how to interpret these results in terms of assembly quality?

lh3 commented 1 year ago

see vcf header