PGC Worldwide Lab, P. Visscher

Inference from SNP array data through GWAS has shown that approximately one-third to two-thirds of the pedigree heritability can be captured from common SNPs. For psychiatric disorders, estimates of SNP-heritability are typically less than 50% of the estimates of pedigree heritability. One hypothesis of the difference between these estimates is that low frequency and rare variants are not sufficiently tagged by common genotyped and imputed variants. If remaining genetic variance can be captured from whole-genome-sequence (WGS) data then this has implications of gene and gene variant discovery and for polygenic prediction. We will show results from analyses on WGS data on more than 20,000 samples on the ‘model’ traits height and BMI.