The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data  Zongxiao He, Di Zhang, Alan E. Renton, Biao Li, Linhai Zhao, Gao T. Wang, Alison M. Goate, Richard Mayeux, Suzanne M. Leal  The American Journal of Human Genetics  Volume 100, Issue 2, Pages 193-204 (February 2017) DOI: 10.1016/j.ajhg.2016.12.001 Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree Structures Used in the Simulation Studies (A) Discordant nuclear sib-pair: the family contains parents, an affected child, and an unaffected child. (B) Affected sib-pair: the nuclear family contains parents and two affected children. (C) Extended three-generation pedigree. The American Journal of Human Genetics 2017 100, 193-204DOI: (10.1016/j.ajhg.2016.12.001) Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 2 Power Comparisons of FBAT, RV-PDT, and RV-GDT for Extended Pedigrees with Family Members Missing Genotype Data Genetic variant data were generated for 1,000 extended pedigrees with ExAC non-Finnish European variant information. Different proportions of the rare nonsense, missense, and splice-site variants were deemed to be causal: 50% (A and D), 75% (B and E), and 100% (C and F) with an OR of 2.5. (A–C) Power comparisons when the probability that each founder was missing all genotype data ranged from 0% to 75%. (D–F) Power comparisons when the probability that each parent (founder or non-founder) was missing all genotype data ranged from 0% to 75%. The American Journal of Human Genetics 2017 100, 193-204DOI: (10.1016/j.ajhg.2016.12.001) Copyright © 2017 American Society of Human Genetics Terms and Conditions