26. Uncovering the genetic etiology of inherited bone marrow failure syndromes using a custom-designed NGS panel

Introduction: Inherited bone marrow failure syndromes (IBMFSs) are a group of heterogeneous disorders characterized by failure to generate enough blood cells in bone marrow. IBMFSs account for ∼30% of pediatric bone marrow failure and are associated with developmental abnormalities and increased cancer risk. We have developed and clinically validated a large NGS-based panel to facilitate the diagnosis of IBMFSs.

Source: Cancer Genetics and Cytogenetics - March 31, 2019 Category: Genetics & Stem Cells Authors: Fumin Lin, Fengqi Chang, Kajia Cao, Helge Hartung, Michele Lambert, Lea Surrey, Minjie Luo, Michele Paessler, Kristin Zelley, Daniel Gallo, Elizabeth Denenberg, Edward Romasko, Xiaonan Zhao, Tim Olson, Marilyn Li Source Type: research