Targeted long-read sequencing for clinical diagnostics
April 17, 2026 @ 09:00 – 10:00 CEST
Clinical Genomics Webinar Series
Clinical Genomics Uppsala is hosting this webinar as part of the Clinical Genomics Platform webinar series
How Targeted Long‑Read Sequencing is Transforming Diagnostic Accuracy and Workflow Integration in Hereditary Cancer and AML
Accurate and comprehensive detection of pathogenic genetic variants is critical for effective diagnosis, risk assessment, and patient management in clinical settings. In this webinar, Clinical Genomics Uppsala presents how targeted long-read sequencing (TLRS) is being developed and implemented to advance molecular diagnostics across different disease areas.
In the first part, we focus on hereditary cancer diagnostics, where identifying pathogenic variants in cancer-associated genes is essential. We present the evaluation of a custom-designed TLRS panel using PacBio long-read sequencing technology, covering clinically relevant genes and demonstrating high sensitivity, improved resolution of complex genomic regions, and the ability to determine variant phasing. These advantages highlight the potential of TLRS to enhance diagnostic accuracy and support its integration into routine clinical workflows.
The second part addresses acute myeloid leukemia (AML), where rapid and comprehensive genetic characterization is crucial for risk stratification and treatment decisions. We showcase a long-read amplicon sequencing workflow based on Oxford Nanopore technology that consolidates the analysis of key clinically relevant genes—including TP53, FLT3, IDH1, IDH2 and NPM1—into a single assay. This unified approach reduces the need for multiple parallel tests, streamlining diagnostics while maintaining high clinical relevance.
Together, these presentations illustrate how targeted long-read sequencing can improve diagnostic efficiency, resolve complex genomic challenges, and pave the way for more integrated and informative clinical testing strategies.
Everyone is welcome so feel free to spread the details with anyone who may be interested. Hope to see you there!
Host: Ida Höijer, Project Coordinator, Clinical Genomics Uppsala
Invited speakers: Joakim Klar, Uppsala University Hospital & Rebecka Östlund, Uppsala University
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