Insight
Optimizing Biobank-Scale Genomics For Rare Diseases
By Tien-Anh Nguyen on • 4 minutes read
The Challenge: Big Data Meets Complex Biology Developing a scalable solution for rare disease screening at population scale presents a perfect storm of computational and biological complexity. The numbers can be staggering: over a billion variant alleles distributed across hundreds of thousands of genomic shards, often totaling tens of terabytes of data. But beyond the computational demands lies an even greater hurdle—the nuanced molecular complexity of rare genetic diseases themselves. Unlik
