Accurate and scalable genome-wide ancestry estimation using haplotype clusters

Abstract excerpt

Unsupervised genome-wide ancestry estimation has been a staple in population and medical genetics for decades, and its importance continues to grow with the increasing number of large genetic cohorts of mixed ancestries. We propose an extension to the hapla framework that scales model-based ancestry estimation to unprecedented sample sizes by leveraging inferred haplotype clusters from phased genotype data. Our h...

Topics

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• Algorithms
• Clustering Algorithms
• Genetics, Population
• Genome, Human
• Genome-Wide Association Study
• Haplotypes
• Models, Genetic
• Polymorphism, Single Nucleotide

Identifiers and source

Literature Corpus work

42e0bedd-cd4c-5da9-aa99-dd0c4d1c3ce9

DOI

10.1101/2025.09.02.673718