Proband of CEPH Family 1463

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5.5 years ago

ognjen011 ▴ 290

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 • 1.2k views

ADD COMMENT • link 5.5 years ago by ognjen011 ▴ 290

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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.

ADD REPLY • link 5.5 years ago by Ram 44k

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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.

ADD REPLY • link 5.5 years ago by ognjen011 ▴ 290

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