We just received an update from Jason Bobe at the Personal Genome Project that the first set of non-Caucasian prospective NIST Reference Materials is about to be sent to Coriell for development into cell lines. This is a trio of East Asian ancestry (China), and more details are available at:
https://my.personalgenomes.org/profile/hu38168C
https://my.personalgenomes.org/profile/huCA017E
Blog
Next GIAB Workshop - Aug 15-16 at NIST
Hi All,
We wanted to let everyone know that our next Genome in a Bottle Consortium workshop will be held August 15-16, 2013 at NIST in Gaithersburg, MD. Please hold these dates on your calendars. An agenda and more information will follow.
Cheers,
Justin
Performance Metrics Call Summary (5/22/13)
Hi all,
First, to help coordinate efforts, Brad Chapman kindly set up a google group email list for discussion of performance metrics. You can sign up at http://groups.google.com/group/biovalidation.
Characterization Working Group Call Summary (5/21/13)
We recently received ~8300 10ug vials of homogeneous DNA for NA12878, which is the pilot candidate NIST Reference Material that will be characterized on a whole-genome scale. We are welcoming volunteers to help with sequencing the candidate Reference Material, if you are willing to share the data on the Consortium FTP site. Because we expect these 8300 vials to be homogeneous, you would be able to compare your results to other labs and sequencing methods.
Conference call: Want to help characterize the pilot candidate NIST Reference Material?
We recently received ~8300 10ug vials of homogeneous DNA for NA12878, which is the pilot candidate NIST Reference Material that will be characterized on a whole-genome scale. We are welcoming volunteers to help with sequencing the candidate Reference Material, if you are willing to share the data on the Consortium FTP site. Because we expect these 8300 vials to be homogeneous, you would be able to compare your results to other labs and sequencing methods.
Summary of Bioinformatics Working Group Call (5/10/13)
1. Steve Sherry, Chunlin Xiao, and others at NCBI have been organizing existing public datasets for the GIAB pilot genome NA12878, which they plan to make available on a public NCBI FTP site in the next week or so. The datasets that will initially be on the FTP site are listed in the google drive document with Yes in the 3rd column (https://docs.google.com/spreadsheet/ccc?key=0ArAo1qqJJDHQdHo0U1FzQV9JYVZ...).
May 10 Bioinformatics Working Group Conference Call
Hi all, NCBI is working hard to get a Genome in a Bottle ftp site online in the next week or two, so we thought this would be a good time to have a conference call with the Bioinformatics working group. We’d like to discuss several items:
1. Our plans for organizing the ftp site, including ability to download and upload data.
2. Which file formats would be most useful?
3. How should we perform QC on datasets to determine whether they should be included in analysis?
Proposed Microbial Genome Reference Materials
Dear all,
This does not fall under the Genome in a Bottle Consortium work with human genome Reference Materials, but for any of you who are also interested in microbial sequencing, we are interested in your feedback about a related microbial Reference Material project at NIST. If you're not interested in microbial sequencing, you can skip the rest of this blog.