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Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.


ABSTRACT:

Background

Tibetans are genetically adapted to high-altitude environments. Though many studies have been conducted, the genetic basis of the adaptation remains elusive due to the poor reproducibility for detecting selective signatures in the Tibetan genomes.

Results

Here, we present whole-genome sequencing (WGS) data of 1001 indigenous Tibetans, covering the major populated areas of the Qinghai-Tibetan Plateau in China. We identify 35 million variants, and more than one-third of them are novel variants. Utilizing the large-scale WGS data, we construct a comprehensive map of allele frequency and linkage disequilibrium and provide a population-specific genome reference panel, referred to as 1KTGP. Moreover, with the use of a combined approach, we redefine the signatures of Dar

SUBMITTER: Zheng W 

PROVIDER: S-EPMC10099689 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature