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Article

The hazards of genotype imputation when mapping disease susceptibility variants.

Genome biology - 3 Jan 2024

Lau Winston, Ali Aminah, Maude Hannah, Andrew Toby, Swallow Dallas M, Maniatis Nikolas

Abstract excerpt

BACKGROUND: The cost-free increase in statistical power of using imputation to infer missing genotypes is undoubtedly appealing, but is it hazard-free? This case study of three type-2 diabetes (T2D) loci demonstrates that it is not; it sheds light on why this is so and raises concerns as to the shortcomings of imputation at disease loci, where haplotypes differ between cases and reference panel. RESULTS:...

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Share to Diabetes Mellitus, Type 2
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 38172955
DOI: 10.1186/s13059-023-03140-3
PMCID: PMC10763476

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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