Genotype Imputation for Genome-Wide Association Studies.

Marchini, J., & Howie, B. (2010). Genotype Imputation for Genome-Wide Association Studies. Nature Reviews Genetics, 11(7), 499-511.

Type

Journal article

Intellectual base

Primary research

Year

2010

DOI

10.1038/nrg2796

Link

https://doi.org/10.1038/nrg2796

Cited from

data_science

Cited by

2 citations across 2 artifacts.

Each citation links to the sentence it supports in the citing article.

Primes

• Imputation
  • Climate science. Proxy time series have gaps from local damage and sampling discontinuities; gap-filling is routine with declared assumptions about the underlying process, and reanalysis products fill instrumental gaps with model-based imputation. Genetics. Missing genotypes are imputed against reference haplotype panels that encode population structure; this is now standard in association-study workflows.

    This sourceGenotype imputation against reference haplotype panels, the ancestry-match (pattern-similarity) hazard, and the imputation-quality (r-squared) score carried into downstream association tests.

Domain-specific

• Tag SNP
  • Tags provide input information, but choosing tags and performing imputation are distinct operations.

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