#36 · Epigenomics

Donor-specific assemblies link structural variants to 3D chromatin contact divergence

The common thread is a move from a single reference genome toward individual- and haplotype-resolved analysis, in which person-specific variation is the analytical object. Haplotype-resolved Hi-C across 354 human and 12 ape haplotypes, built on donor-specific assemblies, links structural variants to recurrent 3D chromatin contact divergence. RAIDS extends ancestry and admixture inference across WGS, WES, RNA-seq, ATAC-seq and ChIP-seq data, widening the unit of analysis beyond genome sequencing alone. Identity-by-descent community detection across 13,143 biobank genomes captures environment-linked health disparities beyond self-reported race. The items differ in scope and data type; what is new is treating individual-specific genomic variation, rather than a population average or a single reference, as the object of inference.