impute.me

impute.me calculates polygenic risk scores (PRSs) from direct-to-consumer genome-wide genotype data to quantify genetic liability for complex traits and diseases.

Key Features:

• Polygenic Risk Scores (PRSs): Calculates PRSs by summarizing risk across hundreds of thousands of genetic variants to capture the polygenic architecture beyond single-nucleotide polymorphisms (SNPs).
• Genotype input sources: Processes genome-wide genotype data from direct-to-consumer providers such as 23andMe and AncestryDNA.
• Genotype imputation: Employs algorithms for imputing personal genomes to expand variant coverage from input genotype files.
• Advanced algorithms and custom analyses: Uses advanced computational algorithms to perform custom analyses tailored to genetics-based diseases and health conditions.
• Population-level reporting: Reports results relative to a population-level normal distribution to contextualize individual scores.
• ICD-10 mapping: Maps diseases to International Classification of Diseases (ICD-10) chapter locations and alphabetical listings for disease-centric exploration.

Scientific Applications:

• Risk stratification and prognosis: Provides PRSs to support risk stratification, prognosis, and potential prediction of treatment response for complex disorders.
• Public perception and education: Frames genetic liability as a continuous trait to inform public understanding of genomic risk for common complex disorders.
• Research utilization: Enables research into usage patterns and the influence of PRSs on public acceptance and implementation of precision medicine.

Methodology:

Calculates PRSs using prediction models based on genome-wide summary statistics from external GWAS and performs genotype imputation on personal genome data.