Rare Variant Imputation

[PMID: 26450338] [Trends in Genetics]

Strategies for Imputing and Analyzing Rare Variants in Association Studies

“How do we best merge reference panels that may be on different sequencing technologies and have different coverage steps, and what is the impact of this on imputing rare variants? When analyzing rare variants, is the adjustment for ancestry enough? How do we best extend rare variant analysis methods, which have typically been focused on gene regions, to nongenic regions, where many GWAS hits have been found?”


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