New PrecisionFDA Challenge using GIAB data

[Zook, Justin M. (Fed)]

Dear Genome in a Bottle members,

 

We’re excited to be collaborating with the precisionFDA team on a new “Truth Challenge: Calling Variants from Short and Long Reads in Difficult-to-Map Regions.” This challenge calls on the public to assess variant calling pipeline performance on a common frame of reference, with a focus on benchmarking in difficult-to-map regions, segmental duplications, and the Major Histocompatibility Complex (MHC).  This challenge uses data from the GIAB/PGP Ashkenazi trio, and participants’ variant calls will be compared to a new version of the GIAB benchmark for HG003 and HG004 currently under development.  Thank you to all who have been working with us in GIAB to make this challenge possible!

 

We encourage you to participate in this effort to help the community understand variant calling performance in more challenging genome regions.  The challenge is open until June 8 at https://precision.fda.gov/challenges/10

 

Cheers,

Justin