Forest Plot from Scientific Research

The squares show the estimated disease allele carrier frequency, and the bars show the 95% confidence interval (CI) values. Details of the statistical models are described in Methods . For autosomal dominant loci (AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, HTT, JPH3, NOTCH2NLC, PPP2R2B and TBP), the gray and black boxes show premutation/reduced penetrance and full-mutation allele carrier frequencies. For recessive loci (FXN and RFC1) the gray and black boxes show mono- and biallelic carrier frequencies, respectively.

DOI