User profiles for Damien Downes
Damien DownesOxford University Verified email at ndcls.ox.ac.uk Cited by 2010 |
[HTML][HTML] Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus
The severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) disease (COVID-19)
pandemic has caused millions of deaths worldwide. Genome-wide association studies …
pandemic has caused millions of deaths worldwide. Genome-wide association studies …
[PDF][PDF] A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
Treatment of severe COVID-19 is currently limited by clinical heterogeneity and incomplete
description of specific immune biomarkers. We present here a comprehensive multi-omic …
description of specific immune biomarkers. We present here a comprehensive multi-omic …
Defining genome architecture at base-pair resolution
…, LLP Hanssen, LD Hentges, N Crump, DJ Downes… - Nature, 2021 - nature.com
In higher eukaryotes, many genes are regulated by enhancers that are 10 4 –10 6 base
pairs (bp) away from the promoter. Enhancers contain transcription-factor-binding sites (which …
pairs (bp) away from the promoter. Enhancers contain transcription-factor-binding sites (which …
Tissue-specific CTCF–cohesin-mediated chromatin architecture delimits enhancer interactions and function in vivo
…, AM Oudelaar, D Biggs, C Preece, DJ Downes… - Nature cell …, 2017 - nature.com
The genome is organized via CTCF–cohesin-binding sites, which partition chromosomes into
1–5 megabase (Mb) topologically associated domains (TADs), and further into smaller sub-…
1–5 megabase (Mb) topologically associated domains (TADs), and further into smaller sub-…
DeepC: predicting 3D genome folding using megabase-scale transfer learning
R Schwessinger, M Gosden, D Downes, RC Brown… - Nature …, 2020 - nature.com
Predicting the impact of noncoding genetic variation requires interpreting it in the context of
three-dimensional genome architecture. We have developed deepC, a transfer-learning-…
three-dimensional genome architecture. We have developed deepC, a transfer-learning-…
Single-allele chromatin interactions identify regulatory hubs in dynamic compartmentalized domains
The promoters of mammalian genes are commonly regulated by multiple distal enhancers,
which physically interact within discrete chromatin domains. How such domains form and …
which physically interact within discrete chromatin domains. How such domains form and …
[HTML][HTML] DOT1L inhibition reveals a distinct subset of enhancers dependent on H3K79 methylation
Enhancer elements are a key regulatory feature of many important genes. Several general
features including the presence of specific histone modifications are used to demarcate …
features including the presence of specific histone modifications are used to demarcate …
[PDF][PDF] Absolute quantification of transcription factors reveals principles of gene regulation in erythropoiesis
Dynamic cellular processes such as differentiation are driven by changes in the abundances
of transcription factors (TFs). However, despite years of studies, our knowledge about the …
of transcription factors (TFs). However, despite years of studies, our knowledge about the …
[HTML][HTML] Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia
β-Thalassemia is one of the most common inherited anemias, with no effective cure for most
patients. The pathophysiology reflects an imbalance between α- and β-globin chains with …
patients. The pathophysiology reflects an imbalance between α- and β-globin chains with …
[HTML][HTML] Determining chromatin architecture with Micro Capture-C
Micro Capture-C (MCC) is a chromatin conformation capture (3C) method for visualizing
reproducible three-dimensional contacts of specified regions of the genome at base pair …
reproducible three-dimensional contacts of specified regions of the genome at base pair …