Article

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations

2026-08-31

Abstract excerpt

Genotype imputation remains essential for large-scale human genetics studies, but its performance is limited by the size and ancestral diversity of available reference panels, reducing accuracy for rare variants and underrepresented populations. Here, we present a cloud-based imputation service built on a multi-ancestry reference panel derived from 515,579 jointly phased genomes from the All of Us (N=414,830) and...

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Literature Corpus work: dab5107c-e6d9-5504-9cea-19266edb145e
DOI: 10.64898/2026.08.25.26361247

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