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Enhanced genetic analysis of type 1 diabetes by selecting variants on both effect size and significance, and by integration with autoimmune thyroid disease

By Daniel J M Crouch, Jamie R.J. Inshaw, Catherine C. Robertson, Jia-Yuan Zhang, Wei-Min Chen, Suna Onengut-Gumuscu, Antony J. Cutler, Carlo Sidore, Francesco Cucca, Flemming Pociot, Patrick Concannon, Steven S. Rich, John A Todd

Posted 06 Feb 2021
bioRxiv DOI: 10.1101/2021.02.05.429962

For polygenic traits, associations with genetic variants can be detected over many chromosome regions, owing to the availability of large sample sizes. The majority of variants, however, have small effects on disease risk and, therefore, unraveling the causal variants, target genes, and biology of these variants is challenging. Here, we define the Bigger or False Discovery Rate (BFDR) as the probability that either a variant is a false-positive or a randomly drawn, true-positive association that exceeds it in effect size. Using the BFDR, we identify new variants with larger effect associations with type 1 diabetes and autoimmune thyroid disease.

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