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De novo assembly of a Tibetan genome and identification of novel structural variants associated with high-altitude adaptation

17 Oct 2019

Abstract excerpt

Abstract Structural variants (SVs) may play important roles in human adaptation to extreme environments such as high altitude but have been under-investigated. Here, combining long-read sequencing with multiple scaffolding techniques, we assembled a high-quality Tibetan genome (ZF1), with a contig N50 length of 24.57 mega-base pairs (Mb) and a scaffold N50 length of 58.80 Mb. The ZF1 assembly filled 80 remaining...

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PMID: 34692055
DOI: 10.1093/nsr/nwz160

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