Nanopore sequencing in mixed lineage leukemia

Mixed lineage leukaemia is challenging to diagnose, with >135 different rearrangements known, involving 94 distinct partner genes.

Long nanopore sequencing reads identified complex translocations, and accurately mapped their breakpoints, in mixed lineage leukaemia (MLL) tissue samples.

Methylation calling with PCR-free nanopore sequencing detected differential methylation patterns in MLL samples, and these patterns were comparable to methylation calling data from other technologies.