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Although established diagnostic methods comprise a multidisciplinary approach and are considered gold standard, in some cases they fall short in conclusively identifying hematological neoplasms. In this context, the current SIRIUS study (NCT05046444) delves into the potential of whole genome sequencing (WGS) and whole transcriptome sequencing (WTS) to bridge diagnostic gaps. By analyzing 106 patients with an unclear diagnosis or clinical condition following gold standard diagnostics, our study demonstrates that WGS and WTS can uncover a broader range of somatic alterations, including rare single-nucleotide variants (SNVs), small copy number variations (CNVs), and aberrant gene expression patterns not detected by conventional diagnostics. WGS and WTS provided additional diagnostic insights in 25% of cases, suggesting their value not only in enhancing diagnostic accuracy but also in contributing to more informed prognostic assessments and personalized treatment strategies. Therefore, our study underscores the importance of integrating WGS and WTS into the diagnostic toolbox for hematological neoplasms. This approach promises not only to improve patient outcomes but also to do so in a manner that is both financially sustainable and ethically sound.<\/jats:p>","DOI":"10.1038\/s41375-025-02820-2","type":"journal-article","created":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T06:49:53Z","timestamp":1766126993000},"page":"55-62","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Solving Riddles Through Sequencing (SIRIUS): unlocking hematologic diagnoses by whole genome and transcriptome sequencing"],"prefix":"10.1038","volume":"40","author":[{"given":"Marietta","family":"Truger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9038-3265","authenticated-orcid":false,"given":"Manja","family":"Meggendorfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5083-9838","authenticated-orcid":false,"given":"Wencke","family":"Walter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2432-8898","authenticated-orcid":false,"given":"Stephan","family":"Hutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winfried","family":"Alsdorf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gero","family":"Massenkeil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7999-4359","authenticated-orcid":false,"given":"Uwe M.","family":"Martens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6452-2874","authenticated-orcid":false,"given":"Wolfgang","family":"Kern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"H\u00f6rst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constanze","family":"K\u00fchn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Reiter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0626-0834","authenticated-orcid":false,"given":"Andreas","family":"Hochhaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0196-2837","authenticated-orcid":false,"given":"Torsten","family":"Haferlach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,19]]},"reference":[{"key":"2820_CR1","unstructured":"WHO. 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MT, MM, WW, SH, KH and CK are employed by the MLL. All consumables for WGS and WTS sequencing, including library preparation, were provided by Illumina\n                      \u00ae\n                      , Inc. San Diego, CA (Grant MR-000125). No other financial assistance was received in support of the study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study adhered to the tenets of the Declaration of Helsinki and was approved by the laboratory\u00b4s institutional review board and the Ethics Committee of the Bavarian Medical Association for the use of archived DNA\/RNA samples and associated clinical information. The clinical data were retrieved, and the samples were collected and analysed with the endorsement of the Ethics Committee of the Bavarian Medical Association. All patients gave their informed consent for genetic analyses and the use of laboratory results for research purposes.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}