Applying the National Genomic DNA Reference Materials to Evaluate the Performance of Nanopore Sequencing in Identifying Thalassemia Variants

Abstract excerpt

OBJECTIVES: Nanopore sequencing shows advantages in detecting single nucleotide variations (SNVs), deletions, and complex structural variants as a single test in thalassemia. However, the performance evaluation or verification of this method remains unestablished, which is essential before clinical utility and panel registration. Here, we developed a classification method for thalassemia mutations, enabling...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cancer Genomics and Diagnostics
• Share to Genomics and Rare Diseases
• Share to Hemoglobinopathies and Related Disorders