Genome in a Bottle session on March 21 and podcast

As an update to our previous email/blog post about the upcoming Genome in a Bottle session on March 21 in San Diego, CA, we ask that you register at the link below if you plan to come. Registration for the Genome in a Bottle session is complimentary. The organizers of the XGen Congress recently hosted a podcast ( with Marc Salit and me to talk about Genome in a Bottle in advance of our upcoming Genome in a Bottle session between the XGen Congress and the NGS for Drugs, Patients, and Clinical Trials conferences. This session will be held from 8:30am to noon on Thursday, March 21, and will have presentations from NIST and each of the working group leaders, followed by a discussion time. We welcome any of you to come, and it is free of charge. You can find more information under "Co-located events" at and below:

Genome in a Bottle - The Promise of Confident Human Whole Genome Variant Calls

In the podcast, Marc Salit, Ph.D. and Justin Zook, Ph.D. of the NIST Material Measurement Laboratory speak with Cambridge Healthtech Institute about the current state and opportunities created by the Genome in a Bottle Consortium - an initiative created to develop reference materials, methods, and data needed to assess confidence in human whole genome variant calls. Challenges and initial progress stemming from the consortium's efforts are also discussed.

Hosted by NIST, a panel of experts will discuss progress and updates from each of four working groups: (1) Reference Material (RM) Selection and Design; (2) Measurements for Reference Material Characterization; (3) Bioinformatics, Data Integration and Data Representation; (4) Performance Metrics and Figures of Merit. The workshop will take place on March 21, 2013, bridging Cambridge Healthtech Institute's back-to-back genomic programs: X-Gen Congress & Expo and NGS for Drugs, Patients and Clinical Trials.

Presenters Include:
- Marc Salit, Ph.D., Leader, Multiplexed Biomolecular Science Group, NIST Chemical Science and Technology Laboratory
- Justin Zook, Ph.D., Multiplexed Biomolecular Science Group, NIST Chemical Science and Technology Laboratory
- Justin Johnson, Director, Bioinformatics, EdgeBio
- Andrew Grupe, Ph.D., Senior Director Pharmacogenomics, Celera/Quest Diagnostics
- Stephen Sherry, Ph.D., Chief, Reference Collections Sections, Information Engineering, National Center for Biotechnology
- Michael Eberle, Ph.D., Associate Director, Bioinformatics, Illumina

Register to Attend

- Online:
- By Phone: 781.972.5400
- For Group Discounts, Contact:
David Cunningham
Phone: 781.972.5472