How accurate is the imputation service?

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How accurate is the imputation service?

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Answer

The full explanation

Our imputation service provides high accuracy for expanding your genetic data:

Overall Accuracy:
  • General accuracy range: 95-99%
  • Common variants: 98-99% accurate
  • Less common variants: 90-95% accurate
  • Rare variants: 85-90% accurate
Factors Affecting Accuracy:
1. Ancestry Background:
AncestryTypical Accuracy
European97-99%
East Asian96-98%
African94-97%
South Asian95-98%
Native American92-95%
Mixed94-97%
2. Reference Populations:
  • We use comprehensive reference panels:
  • 1000 Genomes Project
  • HapMap databases
  • Population-specific references
  • Latest genetic research data
3. Original File Quality:
  • High-quality chips (Illumina GSA): Best accuracy
  • Older chips: Slightly lower accuracy
  • More SNPs in original file: Better imputation
What Accuracy Means:
  • 95% accuracy = 95 out of 100 imputed SNPs are correct
  • For 30 million imputed SNPs, 28.5-29.7 million are accurate
  • Common variants (found in many people) are most accurate
  • Rare variants have more uncertainty
Quality Scores:
  • Each imputed SNP includes a quality/confidence score
  • High-confidence SNPs can be trusted like genotyped SNPs
  • Low-confidence SNPs are flagged for careful interpretation
Scientific Validation:
  • Our methods based on peer-reviewed research
  • Continuously validated against new data
  • Regularly updated with improved algorithms
  • Comparable to academic and clinical imputation
Use Cases:
  • Ancestry analysis: High accuracy for admixture and ethnicity
  • Trait predictions: Reliable for most common traits
  • Research: Suitable for population studies
  • Exploration: Excellent for genetic discovery

Note: Imputation is a prediction, not direct testing. For critical medical decisions, direct genotyping or sequencing is recommended.

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