Article

Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA

2024-03-19

Abstract excerpt

Structural variants (SVs) are omnipresent in human DNA, yet their genotype and methylation status is rarely characterized due to previous limitations in genome assembly and detection of modified nucleotides. Because of this, the extent to which these regions act as quantitative-trait loci is also largely unknown. Here, we generated a pangenome graph summarizing the SVs in 782 de novo assembled genomes obtained fro...

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Literature Corpus work: bc2c8657-8539-595d-a83b-1984217144f3
DOI: 10.1101/2024.03.17.585420

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