A Fuzzy sequencer for fast DNA fragment counting and genotyping
Release date:
2025-03-29
Description:
High-throughput sequencing technologies generate massive DNA sequence reads in parallel for further analyses, which rely on the information embedded in the fragmented reads. Information efficiency, defined by the information entropy produced per sequencing reaction cycle, is a fundamental index for the assessment of sequencing technology. We present a fuzzy sequencing strategy with high information efficiency that surpass currently prevailing cyclic reversible terminator sequencing methods. We further constructed a fully functional and high-throughput fuzzy sequencer implementing high-efficiency fluorogenic sequencing-by-synthesis chemistry and tested its performance in various application scenarios including copy-number variation detection, noninvasive prenatal testing, transcriptome profiling, and mutation genotyping. Our results proved that fuzzy sequencing strategy has higher information efficiency and achieves accurate resequencing results with faster turn-over.
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