Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 73,613 bioRxiv papers from 320,330 authors.

Tens of thousands of reproducibly identified GWAS (Genome-Wide Association Studies) variants, with the vast majority falling in non-coding regions resulting in no eventual protein products, call urgently for mechanistic interpretations. Although numerous methods exist, there are few, if any methods, for simultaneously testing the mediation effects of multiple correlated SNPs via some mediator (for example, the expression of a gene in the neighborhood) on phenotypic outcome. We propose SMUT, multi-SNP Mediation intersection-Union Test to fill in this methodological gap. Our extensive simulations demonstrate the validity of SMUT as well as substantial, up to 92%, power gains over alternative methods. In addition, SMUT confirmed known mediators in a real dataset of Finns for plasma adiponectin level, which were missed by many alternative methods. We believe SMUT will become a useful tool to generate mechanistic hypotheses underlying GWAS variants, facilitating functional follow-up. The R package SMUT is publicly available from CRAN at https://CRAN.R-project.org/package=SMUT.

Download data

• Downloaded 452 times
• Download rankings, all-time:
  • Site-wide: 27,153 out of 73,540
  • In genetics: 1,745 out of 4,035
• Year to date:
  • Site-wide: 36,784 out of 73,540
• Since beginning of last month:
  • Site-wide: 36,784 out of 73,540

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide