Polygenic Risk Score Dashboard

Calculate ancestry-aware polygenic risk scores using advanced liability-scale conversion and continuous shrinkage algorithms. Get fast, automated analysis that accounts for population-specific allele frequencies.

How It Works

The polygenic risk score (PRS) analysis runs automatically after ancestry calculation and provides disease risk estimates tailored to your genetic ancestry. The module performs comprehensive variant QC, ancestry-matched allele frequency adjustment, LD-aware clumping, and continuous shrinkage to produce accurate risk estimates.

Available Analyses

Current polygenic risk scores available:

  • IBS - Irritable Bowel Syndrome
  • Alzheimer's Disease - Late-onset Alzheimer's disease

What You'll See

🎛️Analysis Control Panel

Simple one-click interface to start your polygenic risk analysis.

What you'll interact with:

  • "Calculate PRS" button to start analysis
  • Real-time progress indicator
  • Disease selection options (optional)

📊Risk Score Results

Your polygenic risk scores with ancestry-adjusted interpretations.

Example output:

DiseasePRSPercentileORRisk Level
IBS0.8772nd1.8Moderate
Alzheimer's-0.2138th0.9Average

🧬Ancestry-Adjusted Interpretations

Risk scores automatically adjusted based on your ancestry calculation results for more accurate population-specific interpretations.

Ancestry considerations:

  • Odds ratios converted to liability-scale betas (frequency-independent effects)
  • Dosages centered by ancestry-matched allele frequencies
  • Percentiles calculated within ancestry group for accurate interpretation

📈Visualization

Visual representation of your risk scores relative to population distributions.

What you'll see:

  • Risk score distribution plots for each condition
  • Your position within your ancestry group

Advanced Methodology

Bystro's PRS implementation uses algorithms developed by David Cutler at Emory University, enhanced with continuous shrinkage methods and optimized for large-scale analysis of terabyte-sized datasets.

Liability-Scale Conversion

Converts odds ratios to frequency-independent liability-scale effects, solving the ancestry mismatch problem that affects traditional PRS approaches.

Benefit:Accurate scores regardless of allele frequency differences between training and target populations

Ancestry Integration

Seamlessly incorporates ancestry inference results to select appropriate GWAS weights and population references.

Benefit:More accurate risk estimates by accounting for population-specific genetic architecture

Continuous Shrinkage & LD Clumping

Empirical-Bayes shrinkage method combined with LD-aware variant clumping to improve prediction accuracy and reduce overfitting.

Result:More reliable scores by intelligently weighting variants and handling linkage disequilibrium

Current Disease Coverage

Polygenic risk scores are currently available for the following conditions:

Irritable Bowel Syndrome (IBS)

Polygenic risk score for developing IBS based on genetic variants associated with the condition.

Alzheimer's Disease

Late-onset Alzheimer's disease risk assessment using established genetic risk factors.

Understanding Your Results

Important Notes

  • PRS indicates genetic predisposition, not destiny - lifestyle and environment matter significantly
  • Scores are relative to population averages and should be interpreted with clinical context
  • Higher scores suggest increased genetic risk but do not guarantee disease development

Risk Level Interpretation

Risk levels based on ancestry-corrected odds ratios relative to population average:

  • 🟢Protective/Low (OR < 0.67):Below average genetic predisposition, lower tail of distribution
  • 🔵Average (OR 0.67-1.49):Middle ~80% of the distribution, typical genetic predisposition
  • 🟡Moderate/Elevated (OR 1.5-2.9):Top decile, risk similar to common modifiable factors
  • 🟠High (OR 3.0-4.9):Top 2-5% of distribution, clinically significant risk
  • 🔴Very High (OR ≥ 5.0):Top 0.5-1% of distribution, requires clinical discussion

Understanding Your Scores

PRS Value: A score of 0 indicates average risk within your ancestry group. Positive values indicate higher risk, negative values indicate lower risk.
Odds Ratio (OR): Your ancestry-corrected risk compared to population average. OR = 1.0 is average, OR > 1.0 is increased risk, OR < 1.0 is decreased risk.
Percentile: Your position within your ancestry group - higher percentiles indicate higher genetic predisposition.

Using Your Results

  • Clinical Discussion:Share results with healthcare providers for personalized guidance
  • Prevention Planning:Consider lifestyle modifications for higher-risk conditions
  • Screening Decisions:Inform timing and frequency of medical screening