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The structure of simple satellite variation in the human genome and its correlation with centromere ancestry

2023-07-03

Abstract excerpt

Although repetitive DNA forms much of the human genome, its study is challenging due to limitations in assembly and alignment of repetitive short-reads. We have deployed k-Seek , software that detects tandem repeats embedded in single reads, on 2,504 human genomes from the 1,000 Genomes Project to quantify the variation and abundance of simple satellites (repeat units < 20 bp). We find that homopolymers and the...

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Literature Corpus work
8f91c820-4e18-59d0-beaf-04227719b24f
DOI
10.1101/2023.07.03.547555
Open publication

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The structure of simple satellite variation in the human genome and its correlation with centromere ancestryDOI 10.1101/2023.07.03.547555
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