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

Volume

11

Issue

7

Pages

499-511

DOI

10.1038/nrg2796

DOI registrant

Springer Nature

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.

    Supported in partVerified against the publisher's abstract

    The abstract confirms genotype imputation is widely used in GWAS, but says nothing of reference haplotype panels or population structure.

    “Genotype imputation has been used widely in the analysis of GWA studies to boost power, fine-map associations and facilitate the combination of results across studies using meta-analysis.”

    Read by an automated reader; not a human review. How support was checked

Domain-specific

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

Verification

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Registry ID ref:55ef2b9845a2 · see in the full table