GIAB Reference Materials and Data

The Genome in a Bottle Consortium has selected several genomes to produce and characterize as reference materials.  The National Institute of Standards and Technology (NIST) plans to create NIST Reference Materials from these genomes, which will be DNA extracted from a large homogenized growth of B lymphoblastoid cell lines from the Coriell Institute for Medical Research.  The NIST Reference Materials planned are listed below, along with links to their data.

 

Pilot Genome (NA12878): 

Candidate NIST RM 8398 (HG001): Planned release April 2015

GIAB Workshop August 14-15 in Gaithersburg, MD

You are all invited to the next Genome in a Bottle Workshop to be held at NIST (100 Bureau Dr, Gaithersburg, MD) on August 14-15, 2014. This will be a public workshop open to anyone interested in participating in the Genome in a Bottle work. An agenda will be sent out later, but our current plan for times is 9am to 5:30pm on August 14 and 9am to 12:45pm on August 15, followed by a steering committee meeting from 1pm to 2:30pm.

ERCC 2.0 Workshop

The External RNA Controls Consortium (ERCC) is reconvening to develop an updated set of RNA controls. RNA measurement technology has advanced, and new controls are called for to support confidence in the science arising from the new developments.

ABMS/NIST will host an open public workshop on Thursday, July 10 (2pm-6pm) and Friday, July 11 (9am - 2pm), 2014 at Stanford University (immediately following the ENCODE project meeting).
We hope to build upon the past collaborative spirit and success of the ERCC to create the next generation suite of RNA controls, ERCC 2.0.

Performance Metrics Specification Draft Available for Comment

In the January Genome in a Bottle workshop, the Performance Metrics Working Group decided to develop a specification for a “user interface” for the NIST whole genome Reference Materials. This specification is intended to standardize how performance metrics are calculated when a user compares their characterization of the Reference Materials to the benchmark genotypes developed by GIAB.

Presentations

We have posted slides that were presented at the August 16-17, 2012 meeting of the consortium at http://www.slideshare.net/GenomeInABottle/presentations. These include introductory slides, plenary presentations by George Church, Elliott Margulies, and Ryan Poplin, five-minute presentations about related projects, and summaries of discussions from each of the working groups.

Cheers,
Justin

Membership

An essential element of the ABMS program is extensive involvement with private sector biomedical instrumentation companies who are active in the area of developing new quantitative instruments as well as pharmaceutical and diagnostic companies who actively deploy this technology in their diagnostic and therapeutic drug development activities. Affiliates will help define the current challenges in deploying present day technologies and the barriers to translation of these tools into clinical practice.

NIST-GIAB paper online in Nature Biotechnology

We are happy to announce that our paper "Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls" is now published online in Nature Biotechnology at http://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.2835.html.

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