The National Genomic Research Library (NGRL) now contains one of the richest genomic datasets in the world for both rare disease and cancer research.
This follows the curation and addition of all consented genomes from the 100,000 Genomes Project.
The library now holds the data of over 110,000 clinically linked genomes, from over 97,000 participants.
This latest data update to the Genomics England Research Environment, the platform to access the NGRL, is a major milestonem for the 100,000 Genomes Project as well as future research.
With this update, an aggregate dataset of over 78,000 genomes – built from individual genomic variant call format (gVCF) files – were also added to the library, allowing researchers to easily and quickly view a wealth of information on variants across all participants with those variants. This will make research such as genome-wide association studies significantly easier.
The recent update means the NGRL now represents one of the largest collections of whole genomes across several cancers, including both somatic and germline genomes, and rare diseases in the world. As these are disease-specific cohorts, the impact of this is even greater.