Robust snp-based prediction of rheumatoid arthritis through machine-learning-optimized polygenic risk score

HIGHLIGHTS

  • who: Ashley J. W. Lim from the SNPs that are predicted to be potentially functional, modulating expression of the gene by being eQTL SNPs, or potentially altering transcription factor binding sites (TFBS) or intronic splicing regulatory elements (ISRE)The putative functionality of the sole intronic predictive susceptibility SNP (rs200901373) with positive effect size remains unknown. These data thus suggest that while the majority (2/3) of the non-synonymous, predictive coding SNPs have positive effect size and thus may confer susceptibility to RA through modulating protein structure/ function, the majority of the (5/6) of intronic predictive . . .

     

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