The GEnetic Factors for OSteoporosis (GEFOS) Consortium used meta-analysis of whole genome sequencing, whole exome sequencing and deep imputation of genotype data (in reference to the UK10K and 1000Genomes data) to identify low-frequency and rare variants associated with risk of osteoporosis in 53,236 Caucasians [16]. The detailed description about genotype and imputation of GWAS data can be found in the previous study [16]. Each SNP with a minor allele frequency (MAF) > 0.5% was tested for association with an additive effect on femoral neck (FN), lumbar spine (LS) and forearm (FA) BMD, adjusting for sex, age, age2 and weight [16]. The summary statistic data are available online (http://www.gefos.org/).
