Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic var
Whole genome sequencing of AML blood or bone marrow at presentation and remission for 5 patients. Relapse samples are included for 2 patients, totaling 12 WGS BAM files.EGA dataset EGAD00001005120
Mutations affecting NPM1 define the commonest subgroup of acute myeloid leukemia (AML). They frequently co-occur with mutations of FLT3, usually internal tandem duplications (ITD), and less commonly o
The advent of high-throughput next generation sequencing (NGS) technologies that are revolutionizing genomics and transcriptomics by providing a single base resolution tool for a unified deep analysis