Publications
Nature biomedical engineeringMar 2022 |
6
(
3
),
257-266
DOI:
10.1038/s41551-022-00855-9

Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth

Gydush, Gregory; Nguyen, Erica; Bae, Jin H; Blewett, Timothy; Rhoades, Justin; Reed, Sarah C; Shea, Douglas; Xiong, Kan; Liu, Ruolin; Yu, Fangyan; Leong, Ka Wai; Choudhury, Atish D; Stover, Daniel G; Tolaney, Sara M; Krop, Ian E; Christopher Love, J; Parsons, Heather A; Mike Makrigiorgos, G; Golub, Todd R; Adalsteinsson, Viktor A
Product Used
Oligo Pools
Abstract
Assaying for large numbers of low-frequency mutations requires sequencing at extremely high depth and accuracy. Increasing sequencing depth aids the detection of low-frequency mutations yet limits the number of loci that can be simultaneously probed. Here we report a method for the accurate tracking of thousands of distinct mutations that requires substantially fewer reads per locus than conventional hybrid-capture duplex sequencing. The method, which we named MAESTRO (for minor-allele-enriched sequencing through recognition oligonucleotides), combines massively parallel mutation enrichment with duplex sequencing to track up to 10,000 low-frequency mutations, with up to 100-fold fewer reads per locus. We show that MAESTRO can be used to test for chimaerism by tracking donor-exclusive single-nucleotide polymorphisms in sheared genomic DNA from human cell lines, to validate whole-exome sequencing and whole-genome sequencing for the detection of mutations in breast-tumour samples from 16 patients, and to monitor the patients for minimal residual disease via the analysis of cell-free DNA from liquid biopsies. MAESTRO improves the breadth, depth, accuracy and efficiency of mutation testing by sequencing.
Product Used
Oligo Pools

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