Somatic mosaicism is widespread in human biology and disease, yet robust benchmarks are scarce. The Somatic Mosaicism across Human Tissues (SMaHT) Consortium mixed six HapMap cell lines to create artificial somatic variants spanning 0.25%-16.5% variant allele fractions. We developed a technology-agnostic method that bu...
Nahyun Kong, Zi-Tian Tang, Andrew Ruttenberg et al.· Cell Genomics· 1 citation
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
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