Identifying rare, medically-relevant genetic variation in a diverse population: opportunities and pitfalls
Kevin M. Bowling, Michelle L. Thompson, David E. Gray, James M.J. Lawlor, Kelly Williams, Kelly M. East, Whitley V. Kelley, Irene Moss, Devin Absher, E. Christopher Partridge, Anna Hurst, Jeffrey C. Edberg, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper
The paper evaluates genomic screening in Alabama, finding 51% of identified variants were false positives, with higher rates in African-Americans due to alternative alleles.
bioRxiv · May 28, 2020 · PreprintGenetics