National Genomic Research Library grows to over 110,000 clinically linked genomes
The National Genomic Research Library (NGRL) now contains one of the richest genomic datasets in the world for both rare disease and cancer research, following 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 milestone 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 like genome-wide association studies significantly easier to do within our Research Environment.
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. The level of detail and granularity of the genomic data is complemented with constantly improving clinical data, fed back to the Library through NHS Digital and Public Health England.
Dr Loukas Moutsianas, Head of Bioinformatics Research Services at Genomics England, said:
Genomics England’s Research Environment is our platform through which approved researchers can securely access the genomic and other health data held in the NGRL. Participants must give us consent for us to include their de-identified genome and clinical records in this incredible resource for research.