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Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries

Domain:

healthcare

Record type:

paper
Creator:
LiaPivManPal
Publisher:
fig
Host:avatar
Abstract Background Polygenic risk scores (PRS) are valuable to translate the results of genome-wide association studies (GWAS) into clinical practice. To date, most GWAS have been based on individuals of European-ancestry leading to poor performance in populations of non-European ancestry. Results We introduce the polygenic transcriptome risk score (PTRS), which is based on predicted transcript levels (rather than SNPs), and explore the portability of PTRS across populations using UK Biobank data. Conclusions We show that PTRS has a significantly higher portability (Wilcoxon p=0.013) in the African-descent samples where the loss of performance is most acute with better performance than PRS when used in combination.

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doi.orgspringernature.figshare.com

Tags

GeneticsFOS: Biological sciencesBiotechnology69999 Biological Sciences not elsewhere classified80699 Information Systems not elsewhere classifiedFOS: Computer and information sciences19999 Mathematical Sciences not elsewhere classifiedFOS: MathematicsCancer111714 Mental Health+1

Licenses

Creative Commons Attribution 4.0 Internationalhttps://creativecommons.org/licenses/by/4.0/legalcode

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