[HTML][HTML] The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution
Advanced urothelial cancer is a frequently lethal disease characterized by marked genetic
heterogeneity. In this study, we investigated the evolution of genomic signatures caused by …
heterogeneity. In this study, we investigated the evolution of genomic signatures caused by …
Long-range promoter–enhancer contacts are conserved during evolution and contribute to gene expression robustness
Gene expression is regulated through complex molecular interactions, involving cis-acting
elements that can be situated far away from their target genes. Data on long-range contacts …
elements that can be situated far away from their target genes. Data on long-range contacts …
Identification of differentially methylated regions in rare diseases from a single-patient perspective
Abstract Background DNA methylation (5-mC) is being widely recognized as an alternative
in the detection of sequence variants in the diagnosis of some rare neurodevelopmental and …
in the detection of sequence variants in the diagnosis of some rare neurodevelopmental and …
Primary osteoarthritis chondrocyte map of chromatin conformation reveals novel candidate effector genes
Objectives Osteoarthritis is a complex disease with a huge public health burden. Genome-
wide association studies (GWAS) have identified hundreds of osteoarthritis-associated …
wide association studies (GWAS) have identified hundreds of osteoarthritis-associated …
Metadata-guided Feature Disentanglement for Functional Genomics
With the development of high-throughput technologies, genomics datasets rapidly grow in
size, including functional genomics data. This has allowed the training of large Deep …
size, including functional genomics data. This has allowed the training of large Deep …
Investigating the nexus between chromatin and metabolism
S Raineri - 2020 - ora.ox.ac.uk
Metabolism and epigenetics are tightly connected within the cell, as many chromatin-
modifying enzymes use metabolites as co-factors or substrates, and the energetic state of …
modifying enzymes use metabolites as co-factors or substrates, and the energetic state of …