Illumina Genomics Research

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.

We produced whole-genome sequences of 703 individuals from 233 different primate species, including representatives for almost half of all currently recognized species, and cover 86% of genera from all 16 families, representing by far the broadest taxonomic coverage of primate species to date.

PrimateAI-3D is a deep-learning network trained on 4.5 million common genetic variants from 233 primate species. This state-of-the-art classifier accurately quantifies missense variant pathogenicity in humans, which improves discovery of genes affecting clinical phenotypes.