Genotype-Phenotype Association community
Description
Genotype-phenotype association studies seek to identify correlations between genomic variants and disease phenotypes at scale. Analysing the WGS data from the large patient cohorts available in the NGRL facilitates the discovery and characterization of rare genetic variants correlated with a trait or disease. These studies will improve our understanding of the aetiology of disease traits, identify potential new biological pathways underlying phenotypes, and contribute to clinical risk determinations.
The research of this community will seek to identify novel variant-trait associations and identify where such genotypic information can be leveraged for clinical application; such as the provision of polygenic risk scores and development of screening and treatment strategies. Particular attention will be given to the analysis of ancestries underrepresented in genomic research. This community will implement and improve tools for such analyses.
If you have any questions or enquiries regarding this community, please contact the community lead using the link below (it will open in your email application).