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Graph pangenome reveals functional, evolutionary, and phenotypic significance of human nonreference sequences

2022-09-06

Abstract excerpt

Thousands of DNA sequences in global populations are not present in the human reference genome, named nonreference sequence (NRS). Long-read sequencing (LRS) technologies enable better discovery of NRS with large length, particularly in repetitive regions. Here, we de novo assembled 539 genomes in five genetically divergent human populations sequenced by LRS technology and identified 5.1 million NRSs. These NRSs...

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Literature Corpus work
493fd779-bce2-5dc0-aeea-d7a2dc1c85c6
DOI
10.1101/2022.09.05.506692
Open publication

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Graph pangenome reveals functional, evolutionary, and phenotypic significance of human nonreference sequencesDOI 10.1101/2022.09.05.506692
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