235. New User Story Securing a genetic diagnosis for two children with central hypothyroidism

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created by Geraldine_VdAuwera

on 2013-06-06

We are pleased to announce that a new User Story has been published on the GATK website. This brief article tells the story of researchers from Boston Children’s Hospital who were able to secure a genetic diagnosis for two kids with central hypothyroidism thanks to the GATK Best Practices, where a previous analysis had failed. The story illustrates the real-world importance of using the right processing steps and parameters to get usable results out of your data.

http://www.broadinstitute.org/gatk/about/user-stories

*If you have a story you would like to share illustrating your experience in applying the GATK to real-world problems, let us know in the comments below. *

Tags:

userstories, official

Updated on 2013-06-06