Efficient Replication of Genetic Associations Using Self-Reported Medical Data
Author Information
Author(s): Tung Joyce Y., Do Chuong B., Hinds David A., Kiefer Amy K., Macpherson J. Michael, Chowdry Arnab B., Francke Uta, Naughton Brian T., Mountain Joanna L., Wojcicki Anne, Eriksson Nicholas
Primary Institution: 23andMe, Inc.
Hypothesis
Can self-reported medical data effectively replicate known genetic associations?
Conclusion
The study successfully replicated about 75% of expected genetic associations using self-reported medical data from a large cohort.
Supporting Evidence
- 75% of expected genetic associations were replicated.
- Data was collected from a cohort of over 20,000 individuals.
- Self-reported data was gathered through web-based questionnaires.
Takeaway
Researchers asked over 20,000 people about their health and found that many of the genetic links to diseases they expected to see were actually there.
Methodology
The study used web-based questionnaires to gather self-reported data on 50 medical phenotypes from a cohort of over 20,000 genotyped individuals.
Potential Biases
Potential bias from participants viewing their genetic risk results before answering survey questions.
Limitations
Some conditions were assessed with single questions, which may have led to misdiagnosis or misreporting.
Participant Demographics
Participants were of European ancestry, approximately 58% male, with an average age of 46.
Statistical Information
P-Value
p<0.05
Confidence Interval
95%
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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