Mutations in newly discovered Mendelian disease genes represent a significant portion of positive findings in diagnostic exome sequencing (DES)

• Authors: Sha Tang; Kelly Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Stephanie Gandomi; Ira Lu; Cameron Mroske; Ruth Baxter; Xiang Li; Brigette Tippin; Wenqi Zeng; Elizabeth Chao
• Collaborators: University of California, Irvine
• Conference: ACMG 2014
• Date: Tuesday, Mar 25, 2014 12:00am - 12:00pm