Proband of CEPH Family 1463
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2.0 years ago
ognjen011 ▴ 200

Maybe I have some terminology wrong, or I misunderstand something about pedigrees, but isn't the proband the starting point of a study? Why is he not included in the cohort? If you look at the link:

https://www.coriell.org/0/Sections/Collections/NIGMS/CEPHFamiliesDetail.aspx?PgId=441&fam=1463&

We have proband's parents, and then some offspring (proband's?), but where is the code for the proband him/herself? Who is he/she in this family tree and cohort?

So far I assumed NA12878 is the proband due to the ubiquitousness of that sample.

pedigree • 422 views
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So far I assumed NA12878 is the proband due to the ubiquitousness of that sample.

I would not make that assumption without stated proof. The website looks weird, where neither the cohort level page nor the individual level page contain any link to the proband. You might benefit from emailing the site contact.

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These are the famous Illumina Platinum genomes, I was hoping there was some common knowledge involved. But I am glad you are perceiving the same weirdness as I did.

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