Illumina Partners to Analyze 100,000 Pediatric Genomes for Rare Diseases
Illumina and D3b will analyze 100,000 pediatric whole genomes using DRAGEN v4.4 and ICA, creating one of the largest unified genomic datasets for rare diseases and pediatric cancers. The cloud-based platform enables cross-cohort analysis and ARPA-H’s PCX program across 200+ institutions to speed clinical translation of genomic insights.
1. Partnership to Advance Pediatric Research
Illumina has teamed with the Center for Data-Driven Discovery in Biomedicine to centralize pediatric cancer and rare disease data on a scalable cloud platform, aiming to unify research efforts and accelerate scientific breakthroughs.
2. 100,000-Genome Dataset and Technology
The initiative applies DRAGEN v4.4 and Illumina Connected Analytics to process and analyze 100,000 whole genomes, offering high accuracy, speed, and structural variant detection across a massive cohort.
3. National Data Exchange and Clinical Impact
Supporting ARPA-H’s Pediatric Care eXpansion program, the project connects over 200 institutions, enabling clinicians to access cross-cohort genomic insights and shorten patient care timelines for precision medicine.