Single base substitution mutational signatures in pediatric acute myeloid leukemia based on whole genome sequencing

The median age of the patients was 8 years (range 0-17 years) and the female/male ratio was 1:1. DNA was extracted from diagnostic bone marrow (BM; n = 17)/peripheral blood (PB; n = 3) samples, remission BM (n = 15)/PB (n = 5), and from two BM relapses.

Construction of libraries, using the TruSeq Nano DNA sample preparation kit (Illumina, San Diego, CA, USA) on 100 ng DNA, and massively parallel sequencing were performed by BGI Tech Solutions (Hong Kong). The WGS (Illumina HiSeqX) reached an average sequencing depth of 30-42x/sample (median 33x), with 2x 150 bp read length.