Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders

In conclusion, ES has the potential to molecularly diagnose causes of IPD, and to identify candidate genes for functional evaluation. Robust exome sequencing also requires that coverage of genes known to be associated with clinical findings of interest need to be carefully examined and supplemented if necessary. Clinicians who undertake ES should understand the limitations of the test and the full significance of results that may be returned. This article is protected by copyright. All rights reserved.

Source: American Journal of Hematology - September 27, 2017 Category: Hematology Authors: Edward J. Romasko, Batsal Devkota, Sawona Biswas, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Matthew C. Dulik, Christopher S. Thom, Jiwon Choi, Sowmya Jairam, Maria I. Scarano, Ian D. Krantz, Nancy B. Spinner, Laura K. Conlin, Michele P. Lambert Tags: Research Article Source Type: research