Diploid genome assemblies are now routinely available, but most read aligners were designed for haploid references, which have long been the gold standard. When reads are aligned to a diploid assembly...

Single-molecule long-read sequencing of human sperm reveals variation in recombination across donors and that a substantial fraction of non-crossover gene conversions arises before meio...

The differentiation variability of human pluripotent stem cell lines is diagnosed and corrected.

Preferential insertion into the late-replicating inactive X explains L1 accumulation in this chromosome

LINE-1 (L1) retrotransposition generates somatic genomic variation in human cancer, but short-read sequencing has limited our understanding of its structural consequences and dynamics. Using long-read...

Transposable elements (TEs), such as retrotransposons and endogenous retroviruses, are increasingly recognized for their important roles in genome function and impact on disease development. Residing ...

Huang, Rigau and colleagues observe major changes in how DNA is organized in early germ cells before they start developing into sperm or eggs. These results show that germline removes structural ‘memo...

Evolutionarily related ‘proto-point’ centromeres providing resolution to the evolutionary origins of point centromeres are identified in yeast, and comparison shows they evolved in an ancestor with re...

The histone H3 variant CENP-A is considered an epigenetic landmark of centromeres. Its deposition reflects cell-cycle-regulated assembly of M18BP1, HJURP, and PLK1 on a divalent MIS18α/β scaffold. The...

Background Transposable elements (TEs) occupy nearly half of the human genome and play diverse biological roles. Despite their abundance, the extent to which TEs contribute to three-dimensional (3D) g...

In 1985, Earnshaw and Rothfield published in Chromosoma a landmark discovery of the centromere-specific protein CENP-A. Subsequent research has shown that ...

Germline mutation rates per generation are strikingly similar across animals, despite vast differences in life histories. Analogously, in at least one somatic cell type, mutation rates at the end of l...

Abstract. The SWI/SNF family of chromatin remodelling complexes, comprising BAF, PBAF and ncBAF, is known for their critical roles in regulating chromatin

A collection of high-quality human genomes. Contribute to lh3/human-asm development by creating an account on GitHub.

Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...

DNA methylation loss at transposable elements (TEs) can affect neighboring genes and be epigenetically inherited in plants, yet the determinants and significance of this additional system of inheritan...

Quiescence is a state in which cells undergo a prolonged proliferative arrest while maintaining their capacity to reenter the cell cycle. Here, we analyze entry and exit from quiescence, focusing on h...

Genome-wide and targeted perturbation of DNA methylation at centromeres affects CENP-A positioning and centromere structure, resulting in aneuploidy and reduced cell viability.

DNA methylation in mouse primordial germ cells (PGCs) is restricted to transposable elements, but how this unique DNA methylome is established is poorly understood. Here, the authors identify UHRF2 as...

Herpesvirus proteins disrupt centromeres, triggering centromeric DNA amplification and local nuclear activation of the nucleic acid sensor cGAS. This reveals an immune surveillance mechanism in the nu...

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.