Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)
Article first published online: 21 DEC 2011
© 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London
Annals of Human Genetics
Volume 76, Issue 2, pages 159–167, March 2012
How to Cite
Gialluisi, A., Pippucci, T., Anikster, Y., Ozbek, U., Medlej-Hashim, M., Mégarbané, A. and Romeo, G. (2012), Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI). Annals of Human Genetics, 76: 159–167. doi: 10.1111/j.1469-1809.2011.00693.x
- Issue published online: 15 FEB 2012
- Article first published online: 21 DEC 2011
- Received: 20 April 2011 Accepted: 17 October 2011
Figure S1 Mutational spectra and ratios of Homozygotes (HOM, red) versus Compound Heterozygotes (CH, green) for each of the 6 sample examined (excluding alleles with relative frequencies <1% and grouping alleles with relative frequency between 1% and 2% in the "others" group, when present).
Figure S2qsample CI95% vs q1 plot, for a sample size of n = 25, calculated from a simulated affected population with (a) F = 0.0625 (i.e. patients born to first cousins parents) and (b) F = 0.001 (i.e. patients born to unrelated parents).
Table S1Weighted average F for (a) the Lebanese (b) the Turkish (c) the Israeli Arab, and (d) the Israeli Jews samples of patients born to unrelated individuals. Data taken from the http://www.consang.net tables
Supplementary material S1 Sample size analysis.
Supplementary material S2 Pedigrees of consanguineous patients with 1st cousin relationships between parents
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