Question

Reference mitochondrial DNA in GRCh37

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23 months ago

paolo ▴ 70

I have a VCF file that uses assembly h19. How can I determine whether the reference sequence that has been used for the mitochondrial chromosome is YRI or rCRS?

GRCh37 rCRS YRI • 840 views

ADD COMMENT • link 23 months ago by paolo ▴ 70

score 1 · Answer 1 · 2022-12-25

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23 months ago

Jeremy Leipzig 22k

Can you check the header of your VCF? Yoruba 16571bp, rCRS is 16569bp

ADD COMMENT • link 23 months ago by Jeremy Leipzig 22k

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Thank you for the tip! It is the Yoruba.

ADD REPLY • link 23 months ago by paolo ▴ 70