Genome in a Bottle Consortium

The Genome in a Bottle Consortium is a public-private-academic consortium initiated by NIST to develop the technical infrastructure (reference standards, reference methods, and reference data) to enable translation of whole human genome sequencing to clinical practice. The consortium was initiated in a set of meetings in 2011 and 2012, and the consortium now holds biannual public workshops in January at Stanford University and in August at NIST in Gaithersburg, MD.  The next workshop will be held on August 27-28, 2015 in Maryland. Agenda and registration information will be available soon.

Below you will find the most recent blog posts, and in the bar to the left you can find links to the Reference Materials and Data we are producing, as well as a link to sign up for our email list on Google Groups.

GIAB Blog

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 http://tinyurl.com/giabpilot.

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: https://docs.google.com/document/d/19J6YDg1MH1iD-8Q8mmV9L7wHOfuyUC3aogctZ2Nh87U/edit?usp=sharing 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): ftp://ftp-trace.ncbi.nih.gov/giab/ftp/technical/pacbio_data/HG002_HG003_HG004

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Last modified Sat, 21 Feb, 2015 at 8:44