Evaluation of the Ultima Genomics UG 100™ sequencing platform for clinical services

Abstract

The steep reduction in the cost of genome sequencing started with the introduction of Solexa Sequencing-By-Synthesis technology in 2006 has plateaued recently due to technical limitations in the use of closed flowcells and to the cost of reagents. The Ultima Genomics UG 100 is the first sequencing machine to lower the cost of human genome sequencing to 80$. However, technical limitations in resolving long homopolymer regions undermine the application of this technology to short variant calling in clinical settings. Here, we evaluate the ability of UG 100 to identify short variants in relation to its suitability for clinical accreditation, by comparing it with the Illumina NovaSeq 6000 Systems platform. We focus specifically on the small variant calling performance in long homopolymer regions, both genome-wide and in relation to a set of medically-relevant genes that are challenging to sequence. Our analysis aims at supporting clinicians in determining whether the UG 100 platform is well-suited for their studies, and to guide clinical sequencing centers in evaluating the adoption of this emerging technology.