Human Y-chromosomes are characterized by nonrecombination and uniparental
inheritance, carrying traces of human history evolution and admixture. Large-scale …

Since its initial release in 2001, the human reference genome has undergone continuous
improvement in quality, and the recently released telomere-to-telomere (T2T) version—T2T …

Abstract Purpose of Review The length of telomeres, protective structures at the
chromosome ends, is a well-established biomarker for pathological conditions including …

Motivation The gene content regulates the biology of an organism. It varies between species
and between individuals of the same species. Although tools have been developed to …

A complete goat (Capra hircus) reference genome enhances analyses of genetic variation,
thus providing insights into domestication and selection in goats and related species. Here …

Telomere-to-telomere phased assemblies have become the norm in genomics. To achieve
these for diploid and even polyploid genomes, the contemporary approach involves a …

Automated telomere-to-telomere (T2T) de novo assembly of diploid and polyploid genomes
remains a formidable task. A string graph is a commonly used assembly graph …

Motivation Recent advances in long-read sequencing technologies have significantly
facilitated the production of high-quality genome assembly. The telomere-to-telomere (T2T) …

Avena sterilis, the ancestral species of cultivated oats, is a valuable genetic resource for oat
improvement. Here we generated a near-complete 10.99 Gb A. sterilis genome and a high …

拷贝数变异(copy number variation, CNV) 是基因组结构变异(structural variation, SV)
的重要组成部分. 与SNP (single nucleotide polymorphism) 相比, CNV 显示出更丰富的复杂 …