Repetitive DNA sequence detection and its role in the human genome

X Liao, W Zhu, J Zhou, H Li, X Xu, B Zhang… - Communications …, 2023 - nature.com
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, and …

Variant calling and benchmarking in an era of complete human genome sequences

ND Olson, J Wagner, N Dwarshuis, KH Miga… - Nature Reviews …, 2023 - nature.com
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

The complete sequence of a human Y chromosome

A Rhie, S Nurk, M Cechova, SJ Hoyt, DJ Taylor… - Nature, 2023 - nature.com
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

A draft human pangenome reference

WW Liao, M Asri, J Ebler, D Doerr, M Haukness… - Nature, 2023 - nature.com
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …

Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing

M Alonge, L Lebeigle, M Kirsche, K Jenike, S Ou… - Genome biology, 2022 - Springer
Advancing crop genomics requires efficient genetic systems enabled by high-quality
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating …

The complete sequence of a human genome

S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …

The complete sequence and comparative analysis of ape sex chromosomes

KD Makova, BD Pickett, RS Harris, GA Hartley… - Nature, 2024 - nature.com
Apes possess two sex chromosomes—the male-specific Y chromosome and the X
chromosome, which is present in both males and females. The Y chromosome is crucial for …

Two telomere-to-telomere gapless genomes reveal insights into Capsicum evolution and capsaicinoid biosynthesis

W Chen, X Wang, J Sun, X Wang, Z Zhu… - Nature …, 2024 - nature.com
Chili pepper (Capsicum) is known for its unique fruit pungency due to the presence of
capsaicinoids. The evolutionary history of capsaicinoid biosynthesis and the mechanism of …

The complete and fully-phased diploid genome of a male Han Chinese

C Yang, Y Zhou, Y Song, D Wu, Y Zeng, L Nie, P Liu… - Cell Research, 2023 - nature.com
Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …