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


Abstract

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.

To learn more about other applications of nanopore sequencing in cancer research, click here.

Authors: Anna Dolnik

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