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SNP imputation in association studies

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Only a subset of single-nucleotide polymorphisms (SNPs) can be genotyped in genome-wide association studies. Imputation methods can infer the alleles of 'hidden' variants and use those inferences to test the hidden variants for association.

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Figure 1: Models used in imputation methods.

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Acknowledgements

E.H. is a faculty fellow of the Edmond J. Safra Bioinformatics program at Tel Aviv University. E.H. was supported by National Science Foundation grant IIS-071325412 and by the Israel Science Foundation grant no. 04514831.

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Authors and Affiliations

  1. and the Blavatnik School of Computer Science and the Department of Biotechnology, Eran Halperin is at the International Computer Science Institute, Berkeley, California, USA, Tel Aviv University, Tel Aviv, Israel.,

    Eran Halperin

  2. Dietrich A. Stephan is in the Division of Genomics Research, Navigenics, Foster City, California, USA.,

    Dietrich A Stephan

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  1. Eran Halperin
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  2. Dietrich A Stephan
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Correspondence to Dietrich A Stephan.

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Halperin, E., Stephan, D. SNP imputation in association studies. Nat Biotechnol 27, 349–351 (2009). https://doi.org/10.1038/nbt0409-349

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