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November 2012

Existing and future NA12878 datasets

In collaboration with NCBI and CDC, we've made a list of all of the existing whole genome sequencing, targeted sequencing, and other datasets for NA12878 that are publicly available or will be made publicly available. You can see this list here ( If you know about any datasets that are missing here or can fill in missing information, please feel free to edit the spreadsheet.

Personal Genome Project genomes and ethnic diversity

Jason Bobe and Pete Estep from the Personal Genome Project (PGP) have made a list of 11 enrolled participants that are part of father-mother-child trios, which might be useful for Reference Materials. They are all in different stages of having cell lines made from them at Coriell, with the parents of one Caucasian trio in the QC process. Most of the trios are self-identified as White or Caucasian, but one trio self-identifies as Asian (hu91BD69/hu38168C/huCA017E) and one trio self-identifies as mixed White plus American Indian/Alaskan Native ethnicity (hu620F18/huD4BF17/huD62596).

Post-ASHG Update on Genome in a Bottle

Consortium members had some discussions at the recent ASHG meeting, and we wanted to update everyone on these discussions and our plans moving forward so that anyone can comment on them. NIST has started the process to gain Institutional Review Board (IRB) approval for use of the NA12878 pedigree and Personal Genome Project (PGP) samples as NIST Reference Materials.