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Article

vcfgl: a flexible genotype likelihood simulator for VCF/BCF files.

Bioinformatics (Oxford, England) - 29 Mar 2025

Altinkaya Isin, Nielsen Rasmus, Korneliussen Thorfinn Sand

Abstract excerpt

MOTIVATION: Accurate quantification of genotype uncertainty is pivotal in ensuring the reliability of genetic inferences drawn from NGS data. Genotype uncertainty is typically modeled using Genotype Likelihoods (GLs), which can help propagate measures of statistical uncertainty in base calls to downstream analyses. However, the effects of errors and biases in the estimation of GLs, introduced by biases in the...

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PMID: 40045175
DOI: 10.1093/bioinformatics/btaf098
PMCID: PMC11968323

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