Illumina Genomics Research

In this article, we give an overview of the gVCF Genotyper workflow, show how to deploy it at scale, and demonstrate the performance of the DRAGEN gVCF Genotyper using the 1000 Genomes Project cohort.

This blog presents an evaluation of DRAGEN's germline small variant calling accuracy over multiple versions. Since 2020, DRAGEN methods have eliminated 70% and 60% of variant calling errors against the precisionFDA Truth Challenge V2 and CMRG, respectively. These results position DRAGEN as a highly compelling solution for germline variant calling and its associated applications.

In this article, we highlight the improvements to sequencing and calibration workflows that enable the NovaSeq X to deliver 85% of bases in the highest quality bin (Q40) with excellent correlation to empirical accuracy; the use of PCR-free library preps in the Q-score calibration process; and the data management and cost benefits of quantizing the Q scores to three bins.