Case Study: Genomics England Research Environment achieves whole-cohort gene burden scoring with Lifebit CloudOS

Genomics England Research Environment scores 78,000 genomes for $5,243 with Lifebit

The customer, Genomics England, faced the challenge of scoring gene burden across its 78,000-participant cohort without moving the governed data from its Research Environment. This required processing very large genome files to calculate a combined score for every gene in every person, a task that was infeasible with traditional variant-by-variant analysis.

Lifebit implemented a containerized Nextflow workflow on its CloudOS platform within the secure environment. The solution enabled a reproducible run that scored approximately 24,000 genes for each participant in 214 hours for an estimated compute cost of $5,243. This provided researchers with a comprehensive gene-by-participant matrix to help rank candidate genes for rare disease diagnosis without reopening the original data.