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.
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:
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.
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
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 http://app.certain.com/profile/form/index.cfm?PKformID=0x19409085b04. We hope to see many of you there! The agenda will be posted here early next year.
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: