Polygenetic Risk Score Calculation
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2.4 years ago
Roy ▴ 10

Hello all,

My company has Whole exome sequencing (WES) data for individuals lying around and was wondering if this can be used to generate Polygenic Risk Scores (PRS)? From what I researched online, it seems to be more so used for GWAS and not WES.

Any advice is appreciated!

Roy

PRS Polygenic-risk-score WES • 1.8k views
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Quick note: It's Polygenic risk score, not "Polygenetic" risk score. I've changed your question to reflect this.

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nature communications october 2021. sounds like your company needs a CGO

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2.2 years ago

I wouldn't recommend to this. Most of the component variants in contemporary PRS are non-coding.

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Good catch. I read right over that. Agree, perhaps with the caveat of "depending on the disease". For complex, autoimmune conditions, for example, it would appear that 90% of putatively "causal" variants are located in non-coding regions, with 60% found in enhancer regions alone.

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2.4 years ago
Sam ★ 4.7k

Yes, as long as you have a GWAS that contain SNPs covered by your sequencing. On the other hand, if you are referring to only the rare variants. As far as I know, there isn't any method developed to account for rare variants just yet.

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Yes there is, and as mathematics and logic dictate, it does not substantially differ from calculating PRS for common variants https://www.nature.com/articles/s41467-021-26114-0

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oops missed this paper, seems nice, will have a look. Thanks

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