The landscape of somatic mutation in normal colorectal epithelial cells

H Lee-Six, S Olafsson, P Ellis, RJ Osborne… - Nature, 2019 - nature.com
The colorectal adenoma–carcinoma sequence has provided a paradigmatic framework for
understanding the successive somatic genetic changes and consequent clonal expansions …

Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a …

A Dressen, AR Abbas, C Cabanski… - The Lancet …, 2018 - thelancet.com
Background Idiopathic pulmonary fibrosis (IPF) risk has a strong genetic component. Studies
have implicated variations at several loci, including TERT, surfactant genes, and a single …

Genomic landscape of oxidative DNA damage and repair reveals regioselective protection from mutagenesis

AR Poetsch, SJ Boulton, NM Luscombe - Genome biology, 2018 - Springer
Background DNA is subject to constant chemical modification and damage, which
eventually results in variable mutation rates throughout the genome. Although detailed …

Genomic footprints of activated telomere maintenance mechanisms in cancer

L Sieverling, C Hong, SD Koser, P Ginsbach… - Nature …, 2020 - nature.com
Cancers require telomere maintenance mechanisms for unlimited replicative potential. They
achieve this through TERT activation or alternative telomere lengthening associated with …

Need for high-resolution genetic analysis in iPSC: results and lessons from the ForIPS consortium

B Popp, M Krumbiegel, J Grosch, A Sommer, S Uebe… - Scientific reports, 2018 - nature.com
Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as
disease models and for potential therapeutic use. We describe the comprehensive analysis …

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

JHR Farmery, ML Smith, AG Lynch - Scientific reports, 2018 - nature.com
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to
our understanding of cell replication and vitality. The proliferation of whole genome …

A bioinformatics approach to identify telomere sequences

I Somanathan, C Baysdorfer - Biotechniques, 2018 - Taylor & Francis
Conventional approaches to identify a telomere motif in a new genome are laborious and
time-intensive. An efficient new methodology based on next-generation sequencing (NGS) …

[PDF][PDF] The role of telomere diversity in genome evolution and the role of evolution in shaping telomeres

E Blackburn - Melania Jennifer D'ANGIOLO - theses.hal.science
(Blackburn & Gall, 1978). They are constituted by tandem repeats of a DNA sequence
whose motif and length varies across species. Their essential functions are to stabilize …

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

JHR Farmery, ML Smith… - bioRxiv, 2017 - biorxiv.org
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to
our understanding of cell replication and vitality. The proliferation of whole genome …

[HTML][HTML] The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish

CM Scahill, Z Digby, IM Sealy, RJ White… - Wellcome Open …, 2017 - ncbi.nlm.nih.gov
Background: Mutations in proteins involved in telomere maintenance lead to a range of
human diseases, including dyskeratosis congenita, idiopathic pulmonary fibrosis and …