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This work resolved segregating transposable-element alleles as sequences, epigenetic states, and transcript components using 231 haplotype-resolved human pangenomes with matched long-read multi-omics.
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...
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...
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.
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