#33 · Genomics

Structural variation across human chromosomes, from locus instability to biobank scale

The common thread is structural variation across human chromosomes, examined at scales from individual loci to population cohorts. A comparative analysis of 570 human haplotypes and seven primates attributes structural diversity at 16p12.2 to segmental duplication-mediated instability and reports 32 inversions and deletion susceptibility at this locus. A new method types Robertsonian translocation carriers on the acrocentric chromosomes from short and long reads by estimating distal junction copy number, applied to UK Biobank. A GPU-accelerated scan of roughly 100 trillion inter-chromosomal linkage disequilibrium coefficients across 1000 Genomes populations identifies 1,195 high-LD pairs near centromeres, reporting non-independent assortment of non-homologous chromosomes. What is new is the move from locus-specific description toward population-scale measurement of chromosome-level variation, spanning intrachromosomal rearrangements and inter-chromosomal associations.