Genotyping: UK Biobank (360G-Wellcome-101108_Z_13_Z)

During the next 2 years, all 500,000 participants in UK Biobank will be genotyped. Dense "biobank" genotyping chips have recently been developed that combine measurement of about 250,000 SNPs in a whole-genome array, about 200,000 markers covering copy number variation, loss of function, insertions and deletions, and previously identified risk factor or disease associations, and about 150,000 exome markers which cover a high proportion of non- synonymous coding variants with allele frequency over 0.02%. These "biobank" genotyping chips provide a powerful tool for enabling genome-wide interrogation of common variants, and a scaffold that allows extension to lower frequency and rarer variants by imputation from reference sequence data sets (e.g. 1000Genomes, UK10K, GoT2D). Availability of these genotype data on the whole UK Biobank cohort would allow inference of haplotype phase at the genotyped SNPs at higher accuracy than is typical with whole-genome association studies (GWAS), using novel methods that exploit haplotype sharingwithin populations. The exome-focused component would allow exploration of