Nature Genetics
Papers 9,136
1 page of 914 pages (9,136 results)
#1David Pellman (HHMI: Howard Hughes Medical Institute)H-Index: 76
#2Cheng-Zhong Zhang (Harvard University)H-Index: 25
Oncogene amplification is a major driver of tumorigenesis; yet, the mechanisms generating amplification are only partially understood. New research reports on the identification of a new focal amplification pattern termed ‘seismic amplification’ that is hypothesized to originate from recombination between extrachromosomal DNA circles.
#1Carolina Rosswog (Boston Children's Hospital)H-Index: 6
#2Christoph Bartenhagen (Boston Children's Hospital)H-Index: 20
Last. Matthias Fischer (Boston Children's Hospital)H-Index: 51
view all 20 authors...
The mechanisms behind the evolution of complex genomic amplifications in cancer have remained largely unclear. Using whole-genome sequencing data of the pediatric tumor neuroblastoma, we here identified a type of amplification, termed 'seismic amplification', that is characterized by multiple rearrangements and discontinuous copy number levels. Overall, seismic amplifications occurred in 9.9% (274 of 2,756) of cases across 38 cancer types, and were associated with massively increased copy number...
#1Daniel Holoch (University of Paris)
#2Michel Wassef (University of Paris)H-Index: 44
Last. Raphael Margueron (University of Paris)H-Index: 44
view all 10 authors...
Epigenetic inheritance of gene expression states enables a single genome to maintain distinct cellular identities. How histone modifications contribute to this process remains unclear. Using global chromatin perturbations and local, time-controlled modulation of transcription, we establish the existence of epigenetic memory of transcriptional activation for genes that can be silenced by the Polycomb group. This property emerges during cell differentiation and allows genes to be stably switched a...
#1Douglas P. Wightman (VU: VU Amsterdam)H-Index: 2
#2Iris E. Jansen (VU: VU Amsterdam)H-Index: 22
Last. Danielle Posthuma (VU: VU Amsterdam)H-Index: 103
view all 61 authors...
A new study shows that re-expressing PKD genes early in the course of the disease can fully reverse polycystic kidney disease in mice. These results reveal an unexpected ability of the kidney to regenerate following genetic rescue of polycystin function.
#1Yang Luo (BWH: Brigham and Women's Hospital)H-Index: 17
#2Masahiro Kanai (Harvard University)H-Index: 27
Last. Soumya RaychaudhuriH-Index: 96
view all 34 authors...
#1Poon G (University of Cambridge)H-Index: 2
#2Caroline Watson (University of Cambridge)H-Index: 8
Last. Jamie R. Blundell (University of Cambridge)H-Index: 13
view all 4 authors...
Genetic alterations under positive selection in healthy tissues have implications for cancer risk. However, total levels of positive selection across the genome remain unknown. Passenger mutations are influenced by all driver mutations, regardless of type or location in the genome. Therefore, the total number of passengers can be used to estimate the total number of drivers—including unidentified drivers outside of cancer genes that are traditionally missed. Here we analyze the variant allele fr...
#1Marios Giannakis (Harvard University)H-Index: 32
#2Ulrike Peters (CHIL: Cape Town HVTN Immunology Laboratory / Hutchinson Centre Research Institute of South Africa)H-Index: 87
Mutational signatures can shed light onto mechanisms of carcinogenesis and reveal the mutagenic impact of novel and established environmental risk factors. A new study examines the mutational spectra of esophageal squamous cell cancer together with exposure information in regions of high and low incidence of the disease, and demonstrates both the limitations and potential of mutational signature analyses.
#1Damien J. Downes (University of Oxford)H-Index: 13
#2Cross Ar (University of Oxford)H-Index: 1
Last. C. De Andrea (University of Navarra)H-Index: 1
view all 19 authors...
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19) pandemic has caused millions of deaths worldwide. Genome-wide association studies identified the 3p21.31 region as conferring a twofold increased risk of respiratory failure. Here, using a combined multiomics and machine learning approach, we identify the gain-of-function risk A allele of an SNP, rs17713054G>A, as a probable causative variant. We show with chromosome conformation capture and gene-expression analy...
#1Mireille Kamariza (Harvard University)H-Index: 6
#2Lorin Crawford (Microsoft)H-Index: 11
Last. Hilary K. Finucane (Harvard University)H-Index: 39
view all 4 authors...
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