Related Experiment Video
Updated: Jan 8, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome
Marietta Truger1, Manja Meggendorfer1, Wencke Walter1
1MLL Munich Leukemia Laboratory, Munich, Germany.
Leukemia
|December 19, 2025
Summary
Whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) improve leukemia and lymphoma diagnosis. These advanced genomic techniques offer valuable insights in 25% of challenging hematological neoplasm cases.
Area of Science:
- Hematology
- Genomics
- Oncology
Background:
- Hematological neoplasms like leukemias and lymphomas present diagnostic challenges.
- Current gold standard diagnostics may not always provide conclusive identification of these cancers.
- Advancements in genetic analysis are crucial for improving diagnostic accuracy.
Purpose of the Study:
- To evaluate the utility of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) in diagnosing hematological neoplasms.
- To assess the potential of WGS and WTS to bridge diagnostic gaps left by conventional methods.
- To explore the role of advanced sequencing in identifying rare genetic alterations and gene expression patterns.
Main Methods:
- The SIRIUS study (NCT05046444) analyzed 106 patients with unclear diagnoses after standard testing.
- Whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) were performed on patient samples.
- Analysis focused on identifying somatic alterations, including single-nucleotide variants (SNVs), copy number variations (CNVs), and gene expression.
- Comparison of WGS/WTS findings with results from gold standard diagnostic methods.
Main Results:
- WGS and WTS detected a wider spectrum of somatic alterations than conventional diagnostics.
- Rare SNVs, small CNVs, and aberrant gene expression patterns were identified.
- Additional diagnostic insights were provided by WGS and WTS in 25% of cases studied.
- These advanced techniques enhanced the identification of hematological neoplasms.
Conclusions:
- Integrating WGS and WTS into the diagnostic workflow for hematological neoplasms is recommended.
- These genomic approaches improve diagnostic accuracy and aid in prognostic assessment.
- WGS and WTS support the development of personalized treatment strategies for patients.
- The study highlights the financial sustainability and ethical soundness of adopting advanced sequencing methods.
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