BMC BioinformaticsBioinformaticsPeer-reviewed journal article
Accurate human genome analysis with Element Avidity sequencing
Andrew W. CarrolliD, Alexey KolesnikoviD, Daniel E. CookiD, Lucas Brambrink, Kelly N. Wiseman, Sophie M. Billings, Semyon KruglyakiD, Bryan R. LajoieiD, Junhua ZhaoiD, Shawn LevyiD, Cory Y. McLeaniD, Kishwar ShafiniD, Maria NattestadiD, Pi-Chuan ChangiD
Abstract
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.
- organism: human
- assay: whole-genome sequencing
- research focus: variant calling
- research focus: genome assembly
- approach: experimental assay
- Citations
- 23
- FWCI
- 5.38
- Field percentile
- top 3%
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