Illumina launched a multi-center study called Beyond GiICS to re-analyze and extend rapid whole-genome sequencing efforts in infants and children with rare diseases whose neonatal or pediatric intensive care cases remain undiagnosed. The project involves centers across Europe and the Middle East, and Illumina will provide in-kind reagent and data analysis support. The first phase will use Illumina’s updated Dragen analysis tools—some built on AI—to centrally re-process existing short-read sequencing data, targeting improved variant calling for samples sequenced as early as 2021. Maria Martínez-Fresno Moreno, Illumina’s director of medical affairs in Europe, said the effort could lead to up to 10% of cases resolving. A second phase plans local resequencing of remaining unsolved cases using TruPath Genome technology that blends short-read sequencing with long-read information from DNA fragment location on flow cells, aiming to capture structural variants, short tandem repeats, and other complex changes.
Get the Daily Brief