Ultra-rapid somatic variant detection via real-time targeted amplicon sequencing
Wadden J, Newell BS, Bugbee J, John V, Bruzek AK, Dickson RP, Koschmann C, Blaauw D, Narayanasamy S, Das R.
Communications Biology (Nature), Jul 2022, Vol 5, Article 708. doi:10.1038/s42003-022-03657-6
In plain English
Identifying a tumor's exact mutation normally takes hours. This proof-of-concept method reads the key mutation in about 52 minutes — potentially fast enough to guide decisions while the patient is still in the operating room.
For scientists
Molecular markers are essential for cancer diagnosis, clinical trial enrollment, and intraoperative surgical decision-making. This work presents a proof-of-principle approach for sub-1-hour targeted variant detection using real-time DNA sequencers, demonstrating confirmation of a hotspot mutation from tumor tissue in approximately 52 minutes.