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Comparison of commercial genetic-testing services in Korea with 23andMe service.

Sollip KimKi-Won EomChong-Rae ChoTae-Hyun Um
Published in: BioMed research international (2014)
Among 3 services, there were differences in the estimation of relative risks for the same disease. For lung cancer, the range of relative risk was from 0.9 to 2.09. These differences were thought to be due to the differences of applied single nucleotide polymorphisms (SNPs) in each service for the calculation of risk. Also, the algorithm and population database would have influence on the estimation of relative disease risks. The concordance rate of SNP calls between DNAGPS Optimus and 23andMe services was 100% (30/30). conclusions: Our study showed differences in disease risk estimations among three services, although they gave good concordance rate for SNP calls. We realized that the genetic services need further evaluation and standardization, especially in disease risk estimation algorithm.
Keyphrases
  • healthcare
  • mental health
  • primary care
  • genome wide
  • machine learning
  • deep learning
  • dna methylation
  • gene expression
  • risk assessment
  • human health