作者
Wibowo Arindrarto, Daniel M Borràs, Ruben AL de Groen, Redmar R van den Berg, Irene J Locher, Saskia AME van Diessen, Rosalie van der Holst, Edith D van der Meijden, M Willy Honders, Rick H de Leeuw, Wina Verlaat, Inge Jedema, Wilma GM Kroes, Jeroen Knijnenburg, Tom van Wezel, Joost SP Vermaat, Peter JM Valk, Bart Janssen, Peter de Knijff, Cornelis AM van Bergen, Erik B van den Akker, Peter AC’t Hoen, Szymon M Kiełbasa, Jeroen FJ Laros, Marieke Griffioen, Hendrik Veelken
发表日期
2021/1
期刊
Leukemia
卷号
35
期号
1
页码范围
47-61
出版商
Nature Publishing Group UK
简介
Acute myeloid leukemia (AML) is caused by genetic aberrations that also govern the prognosis of patients and guide risk-adapted and targeted therapy. Genetic aberrations in AML are structurally diverse and currently detected by different diagnostic assays. This study sought to establish whole transcriptome RNA sequencing as single, comprehensive, and flexible platform for AML diagnostics. We developed HAMLET (Human AML Expedited Transcriptomics) as bioinformatics pipeline for simultaneous detection of fusion genes, small variants, tandem duplications, and gene expression with all information assembled in an annotated, user-friendly output file. Whole transcriptome RNA sequencing was performed on 100 AML cases and HAMLET results were validated by reference assays and targeted resequencing. The data showed that HAMLET accurately detected all fusion genes and overexpression of EVI1 …
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W Arindrarto, DM Borràs, RAL de Groen… - Leukemia, 2021