Thank you to all of you who participated in our January 2016 GIAB workshop. We have written a summary of the workshop, including links to slides, which is available as a google doc:
Genome in a Bottle Consortium
The Genome in a Bottle Consortium is a public-private-academic consortium hosted 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 is planned for September 15-16, 2016 on the NIST Gaithersburg, MD campus. Registration information will be sent to the google group in the future.
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.
We also have a new GitHub site with information about GIAB data, genomes, papers, and FAQ at https://github.com/genome-in-a-bottle.
Our manuscript describing GIAB data from the GIAB PGP trios and NA12878 is now available as a preprint at http://biorxiv.org/content/early/2015/09/15/026468. 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.
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.
Last modified Mon, 22 Feb, 2016 at 12:37