Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data

Prevalence Estimation for Monogenic Autosomal Recessive Diseases Using Population-Based Genetic Data.

Schrodi SJ, DeBarber A, He M, Ye Z, Peissig P, Van Wormer JJ, Haws R, Brilliant MH, Steiner RD. (2015) Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. Human Genetics. 134(6):659-69. doi: 10.1007/s00439-015-1551-8.