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Genotype likelihood

Definition
AI-generated

Genotype likelihoods are unnormalized probabilities (or log-likelihoods) of genotypes given read data, before hard assignment.

Why it matters in GWAS

Likelihoods feed joint genotyping, imputation from low-coverage sequencing, and probabilistic association models that avoid thresholded hard calls.

Example usage

"Genotype likelihood–based tests in REGENIE used sequencing data without hard-thresholded GT calls."

References

  • McKenna A, et al. (2010). The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res.

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