Post date: Wednesday, September 16, 2015 - 06:37

Our manuscript describing GIAB data from the GIAB PGP trios and NA12878 is now available as a preprint at  Thank you to all of you who contributed to these data!  The manuscript is submitted to Nature Scientific Data as well.  Note that this is a "Data Descriptor" that describes the data and QC analyses, but not the downstream analyses we are currently doing to generate candidate variant calls and form high-confidence calls.

Post date: Thursday, May 14, 2015 - 13:41

We are thrilled to announce that the pilot GIAB/NIST Reference Material 8398, Human DNA for Whole-Genome Variant Assessment (Daughter of Utah/European Ancestry) is released! This is genomic DNA from a large batch of the same cell line as NA12878.  It is available for sale from the NIST Standard Reference Material website at

Post date: Tuesday, February 24, 2015 - 11:44
At the steering committee meeting, we decided that it would be useful for others in addition to Marc and me to present about GIAB at conferences since we cannot go to every conference.  To facilitate this, we are making a general abstract and slide deck available for anyone to use, as well as a schedule of upcoming conferences to which anyone can add.  If you're interested in submitting an abstract and/or presenting about GIAB at a conference, you can add it to the spreadsheet schedule of conferences and send me an email.
Post date: Tuesday, February 17, 2015 - 15:26

Thank you to all of you who helped make our January 2015 workshop a success.  A summary of this workshop and steering committee meeting is now available at: as well as below:

Executive summary:

Post date: Friday, February 6, 2015 - 10:32

We would like to inform you that, as part of the Platinum Genomes project, Illumina now offers a carefully curated set of phased variant calls for NA12877 and NA12878.

Post date: Monday, February 2, 2015 - 09:36

Hi all,

Thank you for the great workshop last week.  As we discussed at the workshop, several datasets for the GIAB PGP Trios are now on the FTP site:

PacBio data (~20x on Ashkenazim son and ~7x on each parent):

Post date: Friday, January 16, 2015 - 06:52
We've developed a draft agenda for the upcoming GIAB workshop on January 29-30, 2015 at Stanford University.  You can find it on google docs here:
We may update this agenda in the next week as we finalize speakers and topics for discussion, and we welcome any suggestions.
Post date: Friday, December 5, 2014 - 12:04

The registration page for our Genome in a Bottle Workshop on Jan 29-30, 2015 at Stanford University is now available.  If you plan to attend, please register at We hope to see many of you there!  The agenda will be posted here early next year.

Post date: Tuesday, November 18, 2014 - 13:36

We have scheduled a call about strategy for writing papers at 2pm EDT on Friday October 3. The call-in number will be (559) 726-1300; Passcode 135879#. To start the discussion, I've created short outlines of several papers that I've either discussed with others or started to write. We will discuss whether and how to combine these and other ideas, and how to prioritize them:


Post date: Tuesday, November 18, 2014 - 13:34

The first data from the Personal Genome Project (PGPtrios that we plan to
make into NIST Reference Materials is now on the GIAB ftp site.  Complete
Genomics has sequenced both the Ashkenazim and Asian trios from the PGP and
uploaded the data to: