The data was used in the article: From 48 to 46 chromosomes: a novel targeted assembler of segmental duplications unravels the formation of the HSA2 fusion.
The study aimed to assembly human chromosome 2 (HSA2) syntenic sites in non-human primate genomes.
We propose a novel approach which, in contrast to existing assemblers, anchors in a specific region to be extended iteratively. Our targeted assembly is particularly efficient in resolving SD-rich complex genomic regions. With our approach we resolved sequences of subtelomeric regions of the non-human primate chromosomes orthologous to HSA2 fusion site. The extension of the reference sequences informed a model for HSA2 formation resulting in the 46 chromosomes of the human species versus a karyotype of 48 chromosomes, 24 pairs, in non-human primates with a putative evolutionary advantage that might have facilitated its fixation and accumulation. Less...