Question: 1000 genomes genotypes interpretation
gravatar for cocchi.e89
13 months ago by
cocchi.e8950 wrote:

Dear all, I am working on some variants and comparing them with 1000 genomes data. I would like to retrive the number of homozigote patients for the variant, the 1000g VCF file looks like a long list of 0|0 (or 1/2). I looked at their website ( but it is still unclear to me, how would a ALT HOM be specified? And an ALT HEM? What is the difference between 0|1 and 0|2 for example.

Thanks a lot in advance for any help!

het genotype hom 1000g • 265 views
ADD COMMENTlink written 13 months ago by cocchi.e8950
gravatar for Pierre Lindenbaum
13 months ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum128k wrote:

VCF specification . section 1.4.2 "genotype fields"

ADD COMMENTlink written 13 months ago by Pierre Lindenbaum128k
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