Transposable elements are a major source of gene-regulatory functions. Yet this contribution is understood largely from ancient insertions already fixed in the genome: the successes, seen long after the fact. The polymorphic phase before fixation or loss remains poorly resolved because such alleles could be scored only...
Juan Jiang, X. Zhuo, Rong-Han Li et al.· bioRxiv· 0 citations
The human pangenome captures genetic diversity beyond a single linear reference, yet conventional DNA methylome maps largely assume that the underlying CpG substrate is fixed. Here we present a first draft of the human panepigenome on DNA methylation, generated from 440 haplotype-resolved long-read methylomes spanning...
Zheng Dong, Juan F. Macias-Velasco, X. Zhuo et al.· bioRxiv· 0 citations
PL was associated with a higher long-term risk of hospital-treated infections, while adherence to a healthy lifestyle was associated with a substantially lower risk and partially attenuated the excess infection risk associated with PL, highlighting the potential importance of lifestyle modification for long-term infect...
Hao Liu, Yan Chen, Han Qu et al.· Reproductive Health· 0 citations
The Human Pangenome Reference Consortium’s (HPRC) Release 2 (HPRC2) is presented, an openly available, second phase pangenome that is an approximately fivefold expansion in genome number over HPRC Release 1 (HPRC1) and measurable improvement in genome completeness, contiguity, and accuracy.
Julian K. Lucas, Prajna Hebbar, Wen-Wei Liao et al.· bioRxiv· 6 citations
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