Wiseman, K. N. | Search bioRxiv

bioRxiv2024

Characterizing and addressing error modes to improve sequencing accuracy

The accuracy of a sequencing platform has traditionally been measured by the %Q30, or percentage of data exceeding a basecall accuracy of 99.9%. Improvements to accuracy beyond Q30 may be beneficial for certain applications such as the identification of low frequency alleles or the improvement of reference genomes. Here we demonstrate how we achieved over 70% Q50 (99.999% accuracy) data on the AVITI sequencer. This level of accuracy required us to not only improve sequencing quality but also to mitigate library preparation errors and analysis artifacts.

genomics↗

bioRxiv2023

Accurate human genome analysis with Element Avidity sequencing

We investigate the new sequencing technology Avidity from Element Biosciences. We show that Element whole genome sequencing achieves higher mapping and variant calling accuracy compared to Illumina sequencing at the same coverage, with larger differences at lower coverages (20x-30x). We quantify base error rates of Element reads, finding lower error rates, especially in homopolymer and tandem repeat regions. We use Elements ability to generate paired end sequencing with longer insert sizes than typical short-read sequencing. We show that longer insert sizes result in even higher accuracy, with long insert Element sequencing giving noticeably more accurate genome analyses at all coverages.

bioinformatics↗