Characterising structural variants in acute myeloid leukemia using low-depth nanopore sequencing

9% of AML patients can’t be characterised with standard genetic tests; they have a so-called ‘normal karyotype’. Touati: short reads probably could not detect the variants.

With 8x-12x genome coverage, NanoVar outperformed all other SV callers available, for both precision and recall.

NanoVar can characterise SVs in AML samples with low-depth sequencing. So-called ‘normal karyotype’ AML samples contain various cancer-specific SVs.

See the publication on NanoVar in the Resource Centre.