Reproducibility in the UK biobank of genome-wide significant signals discovered in earlier genome-wide association studies.

ABSTRACT: With the establishment of large biobanks, discovery of single nucleotide variants (SNVs, also known as single nucleotide polymorphisms (SNVs)) associated with various phenotypes has accelerated. An open question is whether genome-wide significant SNVs identified in earlier genome-wide association studies (GWAS) are replicated in later GWAS conducted in biobanks. To address this, we examined a publicly available GWAS database and identified two, independent GWAS on the same phenotype (an earlier, "discovery" GWAS and a later, "replication" GWAS done in the UK biobank). The analysis evaluated 136,318,924 SNVs (of which 6289 reached P < 5e-8 in the discovery GWAS) from 4,397,962 participants across nine phenotypes. The overall replication rate was 85.0%; although lower for binary than quantit

SUBMITTER: O'Sullivan JW 

PROVIDER: S-EPMC8452698 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature