Imputation of rare variants in next-generation association studies

Jennifer L. Asimit, Eleftheria Zeggini

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


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.

Original languageEnglish
Pages (from-to)196-204
Number of pages9
JournalHuman Heredity
Issue number3-4
StatePublished - Apr 2013
Externally publishedYes


  • Association test
  • Low-frequency variant
  • Reference panel
  • Sequencing


Dive into the research topics of 'Imputation of rare variants in next-generation association studies'. Together they form a unique fingerprint.

Cite this