Accurate human genome analysis with Element Avidity sequencing

Andrew Carroll
Bryan Lajoie
Daniel Cook
Kelly N. Blease
Kishwar Shafin
Lucas Brambrink
Maria Nattestad
Semyon Kruglyak
bioRxiv (2023)

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