Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

ABSTRACT: 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.

SUBMITTER: Arindrarto W 

PROVIDER: S-EPMC7787979 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature