Nanopore sequencing of DNMT3A in Acute Myeloid Leukemia (AML)
The entire region spanning from exon 14 to exon 23 of the DNMT3A gene was amplified in a single amplicon and prepared for nanopore sequencing (NS). A long-PCR was performed from 200 ng of gDNA, and the amplicons were prepared for sequencing. Basecalling was performed and nanopore data quality was evaluated. Reads were aligned on the GRCh37 human reference genome with minimap2 alignment tool using specific nanopore platform parameters and phasing analysis of DNMT3A variants was performed.