
Related work
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
The above talk is a continuation of recently published work describing the prevalence of pathogenic and likely pathogenic variants in the Healthy Nevada Project cohort, 90% of whom did not qualify for genetic screening under current clinical guidelines. We also analyzed what impact these variants may have on disease free survival among individuals who fall under current clinical guidelines (vs those who don't).
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Early onset of disease in individuals with a monogenic risk compared to individuals with high polygenic risk for three common autosomal dominant conditions