Brad Chapman from Harvard School of Public Health recently posted a blog using our highly confident snp and indel genotypes to understand the accuracy of different variant callers for an exome sequencing dataset at http://bcbio.wordpress.com/2013/10/21/updated-comparison-of-variant-dete.... We are interested in collecting some examples like this of how different groups our using our highly confident genotypes.
We apologize for any inconvenience caused by the GIAB website being down during the US government shutdown. We are now back at work and the website is up and running again.
The Genome in a Bottle (GIAB) Consortium held its second open workshop on August 15-16, 2013 to discuss the reference materials, reference data, and reference methods needed to understand sequencing performance and help enable clinical human genome sequencing. The workshop was attended by ~70 scientists from more than 40 public, private, and academic organizations. Important topics of discussion included:
We plan to broadcast parts of the Genome in a Bottle Consortium Workshop via a webinar on August 15 and 16, so that those who are unable to attend in person can participate. The webinar will be broadcast from 9:30am to 12:45pm on Thursday, August 16, and from 10am to 3pm on Friday, August 17. Webinar participants will be able to ask questions via chat.
We have posted a pre-print of our manuscript (http://arxiv.org/abs/1307.4661), which describes the methods we used to generate highly confident snp, indel, and homozygous reference genotype calls, as well as our results for our pilot genomic Reference Material NA12878.
Registration is now open for our open, public Genome in a Bottle Consortium workshop to be held at NIST in Gaithersburg, MD on August 15-16, 2013. Registration is free and open to all, but we ask that you only register if plan to attend in person, since NIST will cover your registration fee (NIST employees also do not need to register).
NIST, in collaboration with others, has been developing methods to integrate multiple datasets from different sequencing platform to have a highly confident set of genotypes for its Reference Materials. As of now, we have integrated 12 datasets from 5 sequencing platforms to develop highly confident SNP and indel calls.
Dear GIAB Participants,