The UK10K Consortium. Nature 526, 82–90 (2015).

To learn how rare genetic variations affect human phenotypes, one needs linked genotypic and phenotypic data at large scale. The United Kingdom's 10K (UK10K) project provides such data. Researchers carried out sequencing of the genomes and exomes of close to 10,000 individuals, at low and high read depth, respectively, together with extensive phenotypic characterization. Participants ranged from healthy individuals to those with rare diseases, severe obesity and neurodevelopmental disorders. The UK10K consortium characterized more than 24 million new variants and assessed their association with diseases. Although the project found few rare mutations with large effects on phenotype, the data will inform the design of future association studies and provide an accurate imputation reference panel. The project provides a valuable resource of genetic and phenotypic data at the individual level.