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Assembling unmapped reads reveals hidden variation in South Asian genomes

2025-05-14

Abstract excerpt

Conventional genome mapping-based approaches systematically overlook genetic variation, particularly in regions that substantially differ from the reference. To explore this hidden variation, we examined unmapped and poorly mapped reads from the genomes of 640 human individuals from South Asian (SAS) populations in the 1000 Genomes Project and the Simons Genome Diversity Project. We assembled tens of megabases of...

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Literature Corpus work
6a535ba7-1da1-5e78-9bd7-a5e3a1f94d12
DOI
10.1101/2025.05.14.653340
Open publication

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Assembling unmapped reads reveals hidden variation in South Asian genomesDOI 10.1101/2025.05.14.653340
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