The role of retrotransposable elements in ageing and age-associated diseases

V Gorbunova, A Seluanov, P Mita, W McKerrow… - Nature, 2021 - nature.com
The genomes of virtually all organisms contain repetitive sequences that are generated by
the activity of transposable elements (transposons). Transposons are mobile genetic …

Gut microbiome, big data and machine learning to promote precision medicine for cancer

G Cammarota, G Ianiro, A Ahern, C Carbone… - Nature reviews …, 2020 - nature.com
The gut microbiome has been implicated in cancer in several ways, as specific microbial
signatures are known to promote cancer development and influence safety, tolerability and …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Reverse-transcribed SARS-CoV-2 RNA can integrate into the genome of cultured human cells and can be expressed in patient-derived tissues

L Zhang, A Richards, MI Barrasa… - Proceedings of the …, 2021 - National Acad Sciences
Prolonged detection of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
RNA and recurrence of PCR-positive tests have been widely reported in patients after …

The genomic landscape of 2,023 colorectal cancers

AJ Cornish, AJ Gruber, B Kinnersley, D Chubb… - Nature, 2024 - nature.com
Colorectal carcinoma (CRC) is a common cause of mortality, but a comprehensive
description of its genomic landscape is lacking,,,,,,–. Here we perform whole-genome …

Extensive heterogeneity in somatic mutation and selection in the human bladder

ARJ Lawson, F Abascal, THH Coorens, Y Hooks… - Science, 2020 - science.org
The extent of somatic mutation and clonal selection in the human bladder remains unknown.
We sequenced 2097 bladder microbiopsies from 20 individuals using targeted (n= 1914 …

Pan-cancer analysis of whole genomes

Nature, 2020 - nature.com
Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …

BRCA mutations in ovarian and prostate cancer: bench to bedside

S Boussios, E Rassy, M Moschetta, A Ghose… - Cancers, 2022 - mdpi.com
Simple Summary DNA damage is one of the hallmarks of cancer. Epithelial ovarian cancer
(EOC)—especially the high-grade serous subtype—harbors a defect in at least one DNA …

[HTML][HTML] Patterns of somatic structural variation in human cancer genomes

Y Li, ND Roberts, JA Wala, O Shapira, SE Schumacher… - Nature, 2020 - nature.com
A key mutational process in cancer is structural variation, in which rearrangements delete,
amplify or reorder genomic segments that range in size from kilobases to whole …

Measuring and interpreting transposable element expression

S Lanciano, G Cristofari - Nature Reviews Genetics, 2020 - nature.com
Transposable elements (TEs) are insertional mutagens that contribute greatly to the
plasticity of eukaryotic genomes, influencing the evolution and adaptation of species as well …