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Chunk #64 — Methods — Singleton clustering analysis — Identification of mixture component hotspots

Source
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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After assigning singletons to the most likely mixture component, we pooled singletons across individuals of a given ancestry group and counted the number of occurrences in each component in non-overlapping 1-Mb windows throughout the genome. We defined hotspots as the top 5% of 1-Mb bins containing the most singletons in a component in each ancestry group.