Amalia Villagran Suarez,Kathryn S Hatch,Tatyana Bodrug et al.
Amalia Villagran Suarez et al.
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the second most common cause of autosomal-dominant Parkinson's disease (PD), and increased LRRK2 kinase activity is also observed in idiopathic PD, making LRRK2 a major actionable therap...
Wei-Wei Wang,Su-Yu Ji,Wenjia Zhang et al.
Wei-Wei Wang et al.
Published Erratum
Cell. 2026 Aug 6:S0092-8674(26)00918-9. DOI:10.1016/j.cell.2026.07.049 2026
Giulio Formenti,Nivesh Jain,Jack A Medico et al.
Giulio Formenti et al.
Bird genomes are the smallest among amniotes; however, they remain challenging to assemble due to their structural complexity. This study presents a fully phased diploid telomere-to-telomere reference genome for the zebra finch (Taeniopygia...
Complex subtelomeric architectures in a complete rhesus macaque reference genome [0.03%]
完整的恒河猴参考基因组中的复杂亚端粒结构
Shilong Zhang,Ning Xu,Yong Lu et al.
Shilong Zhang et al.
We present T2T-MMU8v2.0, a near-perfect telomere-to-telomere assembly of the rhesus macaque (Macaca mulatta), representing high base-level accuracy reported in a primate genome. Our optimized assembly strategy exposes subtelomeric satellite...
Prajna Hebbar,Tamara Potapova,Hailey Loucks et al.
Prajna Hebbar et al.
The common marmoset is a New World monkey widely used to study primate evolution and human disease. We present a telomere-to-telomere (T2T) reference assembly for the species, plus three near-T2T haplotypes. These resolve previously inacces...
Human acrocentric chromosome short-arm de novo mutation and recombination [0.03%]
人类近端着丝粒染色体短臂的新发突变与重组
Jiadong Lin,F Kumara Mastrorosa,Michelle D Noyes et al.
Jiadong Lin et al.
Highly repetitive short arms of human acrocentric chromosomes have remained largely inaccessible to studies of meiotic recombination and de novo mutation. Integrating long-read and complementary sequencing approaches, we created 156 phased ...
Nancy F Hansen,Nathan Dwarshuis,Hyun Joo Ji et al.
Nancy F Hansen et al.
Human genome sequencing typically relies on mapping reads to a reference genome to call variants, but this approach introduces technical biases, excluding duplicated and structurally polymorphic regions of the genome. To overcome this, we p...
Why studying females reveals more about aging: The reproductive resilience hypothesis for the evolution of sex-specific aging [0.03%]
为什么研究女性能揭示更多关于衰老的真相：进化中性特异性衰老的生殖韧性假说
Parminder Singh,Vineeta Tanwar,Yifan Xiang et al.
Parminder Singh et al.
Classical evolutionary theories of aging, including antagonistic pleiotropy (AP) and the disposable soma theory (DST), explain why aging exists but are often applied without considering how sex-specific reproductive strategies shape the for...
Małgorzata Figiel,Marcin Nowotny
Małgorzata Figiel
In this issue of Cell, Wang et al. reveal the mechanism of a bacterial antiphage system that contains two reverse transcriptases. Through an unprecedented process, the enzymes synthesize double-stranded DNA; one uses a noncoding RNA templat...
Filling the holes in whole genomes: A vision for personalized genomics from telomere to telomere [0.03%]
填补基因组的空白：端到端的个性化基因组学展望
Adam M Phillippy,Yafei Mao,Yu Kang et al.
Adam M Phillippy et al.
Two decades after the Human Genome Project, we finally have the ability to read the complete genome of any human and (nearly) any species. These sequences provide the ideal foundation for training predictive models of the genome that will a...