Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees

摘要

Number of families required for classification of variants with varying relative risks including colon cancer caused by a variant which affects function in MLH1. A horizontal dashed line is drawn at P = 0.05 and a solid line at P = 0.01 for convenience. Here, each set of families is simulated 1000 times to obtain a distribution for the boxplot. The underlying simulation used colon cancer risk from the SEER population as baseline and assumes that 30% of individuals are genotyped