#36 · Genomics

Pangenome assemblies reveal structural variation at human chromosome ends and centromeres

The dominant thread across these preprints is the resolution of repetitive, structurally complex regions of the human genome, namely chromosome ends and centromeres. One study assembles complete subtelomeric sequences from 860 haploid assemblies across six ancestries and reports extensive haplotype divergence and gene copy-number variation at chromosome ends. A second preprint introduces Centrolign, a graph-based multiple sequence alignment tool for alpha satellite higher-order repeats, enabling pangenome-scale analysis of centromere variation. The third item, TRACTINATOR, is a deep-learning method for joint continental and archaic ancestry inference in admixed genomes. It addresses archaic introgression rather than repeat architecture and is related mainly as a population-genomic method. Collectively, the new element is pangenome-scale, haplotype-resolved representation of loci that were previously difficult to compare.