Accurate human genome analysis with Element Avidity sequencing

Andrew Carroll
Daniel Cook
Lucas Brambrink
Bryan Lajoie
Kelly N. Wiseman
Sophie Billings
Semyon Kruglyak
Bryan R. Lajoie
Junhua Zhao
Shawn E. Levy
Kishwar Shafin
Maria Nattestad
BMC Bioinformatics (2025)

Abstract

We investigate the new sequencing technology Avidity from Element Biosciences. We show that Avidity whole genome sequencing matches mapping and variant calling accuracy with Illumina at high coverages (30x-50x) and is noticeably more accurate 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 Element’s 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.

Research Areas

×