Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 57,648 bioRxiv papers from 265,372 authors.

The application of polygenic risk scores (PRS) has become routine in genetic epidemiological studies. Among a range of applications, PRS are commonly used to assess shared aetiology among different phenotypes and to evaluate the predictive power of genetic data, while they are also now being exploited as part of study design, in which experiments are performed on individuals, or their biological samples (eg. tissues, cells), at the tails of the PRS distribution and contrasted. As GWAS sample sizes increase and PRS become more powerful, they are also set to play a key role in personalised medicine. Despite their growing application and importance, there are limited guidelines for performing PRS analyses, which can lead to inconsistency between studies and misinterpretation of results. Here we provide detailed guidelines for performing polygenic risk score analyses relevant to different methods for their calculation, outlining standard quality control steps and offering recommendations for best-practice. We also discuss different methods for the calculation of PRS, common misconceptions regarding the interpretation of results and future challenges.

Download data

• Downloaded 16,787 times
• Download rankings, all-time:
  • Site-wide: 35 out of 57,648
  • In genomics: 9 out of 4,052
• Year to date:
  • Site-wide: 7 out of 57,648
• Since beginning of last month:
  • Site-wide: 16 out of 57,648

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide