{Reference Type}: Journal Article
{Title}: PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.
{Author}: Poszewiecka B;Gogolewski K;Karolak JA;Stankiewicz P;Gambin A;
{Journal}: Genome Biol
{Volume}: 24
{Issue}: 1
{Year}: 2023 09 11
暂无{DOI}: 10.1186/s13059-023-03022-8
{Abstract}: Resolving complex genomic regions rich in segmental duplications (SDs) is challenging due to the high error rate of long-read sequencing. Here, we describe a targeted approach with a novel genome assembler PhaseDancer that extends SD-rich regions of interest iteratively. We validate its robustness and efficiency using a golden-standard set of human BAC clones and in silico-generated SDs with predefined evolutionary scenarios. PhaseDancer enables extension of the incomplete complex SD-rich subtelomeric regions of Great Ape chromosomes orthologous to the human chromosome 2 (HSA2) fusion site, informing a model of HSA2 formation and unravelling the evolution of human and Great Ape genomes.