Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy

Error-corrected ultradeep next-generation sequencing (NGS) assays capable of detecting small clones have clinical value for monitoring measurable residual disease (MRD) in haematological malignancies. However, limited data are available on optimal parameters, limits of detection, and accuracy of ultra-sensitive (<0.02 VAF) detection. We investigated parameters to improve the accuracy of deep sequencing including read depth, input DNA quantity, and molecular barcoding-based data filtering. This submission includes the validation data generated from reference standards and reference samples for this purpose, including dilutions of the Myeloid DNA (HD829) and True-Q 100% Wildtype (HD752) Reference Standards.