The whole is greater than the sum of its parts: Long‐read sequencing for solving clinical problems in haematology.

This article discusses the use of long-read sequencing, specifically nanopore sequencing, for the identification and analysis of atypical structural variations (SVs) in haematological neoplasms. SVs are common in these conditions, but their diagnosis can be challenging. The article presents a case study where nanopore sequencing was used to characterize a novel inv(16) in acute myeloid leukaemia (AML). The findings highlight the potential of long-read sequencing for the comprehensive analysis of atypical SVs. The study describes the use of long-read sequencing to characterize a new atypical inversion in a patient with AML, and suggests that a complete characterization of driver defects in hematological neoplasms could lead to improved disease monitoring and patient management. [Extracted from the article]