Why are rare variants hard to impute? Coalescent models reveal theoretical limits in existing algorithms

Abstract excerpt

Genotype imputation is an indispensable step in human genetic studies. Large reference panels with deeply sequenced genomes now allow interrogating variants with minor allele frequency < 1% without sequencing. While it is critical to consider limits of this approach, imputation methods for rare variants have only done so empirically; the theoretical basis of their imputation accuracy has not been explored. To prov...

Topics

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• Algorithms
• Computer Simulation
• Genome-Wide Association Study
• Genotype
• Models, Genetic
• Mutation
• Poisson Distribution
• Stochastic Processes

Identifiers and source

Literature Corpus work

49aaa608-53c2-5d39-8939-79efda6c6f87

DOI

10.1101/2020.08.10.245043