Combined CRISPR/Cas9 targeted enrichment and whole-genome sequencing allows real-time stratification of acute myeloid leukaemia (AML)


Prompt testing of European LeukemiaNet molecular markers is pivotal for the risk stratification and treatment of AML patients. We have established a two-step 72-hour research assay. First, based on targeted enrichment using a CRISPR/Cas9 system, relevant target regions such as FLT3, t(8;21), inv(16), and MLL translocations can be well covered (~44-fold coverage). Secondary whole-genome sequencing results in ~2-fold genome coverage with a copy number variation resolution of 0.1 Mbp. While additional research testing of this AML panel within round-robin tests are warranted, introduction of this real-time sequencing approach could ultimately, in the future, lead to improved leukaemia diagnostics and patient management.

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Authors: Anna Dolnik