Asimit Jennifer L, Zeggini Eleftheria
Wellcome Trust Sanger Institute, Hinxton, UK.
Hum Hered. 2012;74(3-4):196-204. doi: 10.1159/000345602. Epub 2013 Apr 11.
The role of rare variants has become a focus in the search for association with complex traits. Imputation is a powerful and cost-efficient tool to access variants that have not been directly typed, but there are several challenges when imputing rare variants, most notably reference panel selection. Extensions to rare variant association tests to incorporate genotype uncertainty from imputation are discussed, as well as the use of imputed low-frequency and rare variants in the study of population isolates.
罕见变异在寻找与复杂性状的关联中所起的作用已成为一个焦点。插补是一种强大且经济高效的工具，可用于获取未直接分型的变异，但在插补罕见变异时存在若干挑战，最显著的是参考面板的选择。本文讨论了对罕见变异关联测试的扩展，以纳入来自插补的基因型不确定性，以及在人群隔离研究中使用插补的低频和罕见变异。
