The last chapter of Priyanka Nakka’s dissertation is now published in American Journal of Human Genetics, entitled Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population. Priya led this collaboration as an intern at 23andMe, Inc. The paper focuses on estimating, for the first time, the per-chromosome rates of uniparental disomy (inheriting both copies of a chromosome from just one biological parent) in samples from 23andMe and the UK Biobank. Our paper was also covered in The Atlantic by Sarah Zhang. This study underscores that recombination is simultaneously constrained but also variable and errors can sometimes be corrected. Most surprising, and exciting, for the lab was realizing that some people have incredibly long runs of homozygosity with no clear deleterious effect, an avenue we plan to continue pursuing.
Congratulations to all the authors, especially Dr. Nakka!