Illumina has launched its TruPath Genome to provide researchers with a more complete picture of genomics alterations in genetic disease. 

The company claims the technology fully phases more than 98% of genes, eliminating traditional library prep and generating 16 whole genomes per day in 10 minutes of hands-on time. 

TruPath Genome leverages novel on-flow cell library preparation with patterned flow cell technology and advanced informatics, adding long-distance insights for comprehensive variant detection.  

The technology incorporates DRAGEN algorithms, tuned to incorporate proximity information from TruPath flow cells. Illumina says this can improve read alignment and variant calling, extending high-quality reads to difficult-to-map regions, variant phasing, structural variants, short tandem repeats (STR), and clinically relevant paralogous genes. 

“With TruPath Genome, we are pushing the boundaries of genomics and setting a new standard for genetic and rare disease research,” said Steve Barnard, Chief Technology Officer of Illumina.  

“In rare disease, you’re often looking for a variant needle in a genomic haystack—and comprehensiveness, accuracy, and confidence matter. This technology unlocks rapid answers to shed light on the genomic drivers of genetic disease with an ease that was never thought possible.” 

The technology was recently implemented by the University of Exeter, UK, where researchers said the platform resolved highly complex genomics regions, including a gene known to be associated with inherited adrenal disorders. 

“TruPath Genome opens up a future where every patient affected by a rare genetic condition can receive rapid comprehensive whole-genome testing to end diagnostic odysseys and identify possible precision treatments,” said Emma Baple, Professor of Genomic Medicine at the University of Exeter. 

“In Exeter, we have been privileged to evaluate the TruPath technology and seen the potential to change the lives of affected children and their families. We are eager to see how this innovation evolves, as these types of solutions will transform how rare conditions are diagnosed.”