{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T04:20:13Z","timestamp":1790914813436,"version":"4.1.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100002702","name":"Aalborg University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002702","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>High-throughput sequencing is transforming cancer diagnostics, research, and clinical decision-making, yet accurate identification of disease-driving somatic variants often requires comparing tumor and normal DNA. This study aimed to identify the optimal normal reference sample for whole exome sequencing (WES) in myeloid-derived cancers. T-cells, skin biopsies, saliva, and a tumor-only analysis were evaluated by comparing variant calls from tumor-reference pair to those from tumor-fibroblast analyses. T-cells demonstrated the highest sensitivity (0.91-1.00) and lowest false positive rate, establishing them as a reliable reference option. Skin biopsies and saliva yielded inconsistent results, likely due to leucocytic contamination. While tumor-only analysis offered high sensitivity, it generated numerous false positives; however, a selective filtration strategy provides a feasible solution by omitting the need for a normal reference sample. These findings suggest T-cells are the optimal balance of accuracy and practicality for identifying somatic variants in myeloid cancers, while tumor-only analysis presents a viable alternative with careful filtering. This improved workflow supports efficient and reliable genomic profiling for personalized treatment decisions. ClinicalTrials.gov, TRN: NCT05695638, Registration date: 10 January 2023.<\/jats:p>","DOI":"10.1007\/s00277-025-06699-y","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T04:27:45Z","timestamp":1761107265000},"page":"6091-6095","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Evaluation of reference sample type for somatic variant calling in myeloid cancers"],"prefix":"10.1007","volume":"104","author":[{"given":"Maja Z.","family":"Jakobsen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emil-August","family":"Torp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Issa I.","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helle","family":"H\u00f8holt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"S\u00f8nderkaer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Madsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa-Maj","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maren P.","family":"J\u00f8rgensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne K.","family":"N\u00f8hr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasmus F.","family":"Br\u00f8ndum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel T.","family":"Kristensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Dybkaer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne T.","family":"Severinsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0567-9967","authenticated-orcid":false,"given":"Hanne","family":"Due","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,10,22]]},"reference":[{"issue":"21","key":"6699_CR1","doi-asserted-by":"publisher","first-page":"2228","DOI":"10.1182\/blood.2022015853","volume":"140","author":"EJ Duncavage","year":"2022","unstructured":"Duncavage EJ (2022) Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia. 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