Population Genomics community

The Population Genomics community includes researchers studying genomic variation in population-scale cohorts of individuals within the National Genomic Research Library (NGRL). It fosters research and collaboration using the data and resources in the NGRL and external datasets, including the development of methods, tools and new resources. This research aims to improve our understanding of human genetic variation and the processes that shape it, such as demography, ancestry, natural selection and genetic mutation. It also aims to elucidate the genomic contribution to disease and health in the population, and to inform diagnosis, treatment and the potential impact of interventions.

The NGRL comprises population-wide genomic and phenotypic data, representing individuals from a wide diversity of ancestral, cultural and social backgrounds. In particular, this includes more than 10,000 whole-genome sequenced family trios as part of the rare disease cohort. Thus, it provides a valuable, and in many aspects unprecedented, opportunity for population genomic research.

Priority research areas include:

• Development of population genetic and computational methods for ancestral demographic inference.
• Understanding evolutionary genetic processes such as de novo mutation and structural variation.
• Applying machine learning and AI approaches to understanding genomic variation and function.
• Statistical modelling of genetic, environmental and other exposure-related factors in health and development.
• Methods for analysis and prediction combining a diversity of data types, including health records, biomarkers, functional genomics and metadata, in addition to genomic sequences.