Randi Istrup Juul
A5010194544- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Evolution and Genetic Dynamics
- Genomics and Chromatin Dynamics
- Bioinformatics and Genomic Networks
- Genetic factors in colorectal cancer
- Cancer-related molecular mechanisms research
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Genomics and Rare Diseases
- Bladder and Urothelial Cancer Treatments
- Epigenetics and DNA Methylation
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- RNA Research and Splicing
- Cancer Immunotherapy and Biomarkers
- Cancer, Hypoxia, and Metabolism
- Telomeres, Telomerase, and Senescence
- Lung Cancer Treatments and Mutations
- Genetics, Bioinformatics, and Biomedical Research
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Gene expression and cancer classification
- Biological Research and Disease Studies
- Radiomics and Machine Learning in Medical Imaging
Aarhus University Hospital
2020-2024
Aarhus University
2021-2024
The discovery of drivers cancer has traditionally focused on protein-coding genes
Abstract Long non-coding RNAs (lncRNAs) are a growing focus of cancer genomics studies, creating the need for resource lncRNAs with validated roles. Furthermore, it remains debated whether mutated can drive tumorigenesis, and such functions could be conserved during evolution. Here, as part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium, we introduce Cancer LncRNA Census (CLC), compilation 122 GENCODE causal roles in phenotypes. In contrast to existing databases, CLC requires...
Multi-omics datasets represent distinct aspects of the central dogma molecular biology. Such high-dimensional profiles pose challenges to data interpretation and hypothesis generation. ActivePathways is an integrative method that discovers significantly enriched pathways across multiple using statistical fusion, rationalizes contributing evidence highlights associated genes. As part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing from...
Abstract The catalog of cancer driver mutations in protein-coding genes has greatly expanded the past decade. However, non-coding are less well-characterized and only a handful recurrent mutations, most notably TERT promoter have been reported. Here, as part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2658 across 38 tumor types, we perform multi-faceted pathway network analyses 2583 genomes 27 types compiled by PCAWG...
Abstract The discovery of driver mutations is one the key motivations for cancer genome sequencing. Here , as part ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium which aggregated whole sequencing data from 2658 cancers across 38 tumour types, we describe DriverPower, a software package that uses mutational burden and functional impact evidence to identify in coding non-coding sites within genomes. Using total 1373 genomic features derived public sources, DriverPower’s...
Abstract T cells are key effector in the adaptive immune system, playing a central role defense against pathogens. However, as we age, undergo functional decline due to immunosenescence, gradual decay of system with age. This negatively affects function and composition cells, leading an increased susceptibility age-related diseases, such cancer. We hypothesized that characterization peripheral blood cell receptor (TCR) repertoire has potential provide insights into current state serve...
Abstract Large sets of whole cancer genomes make it possible to study mutation hotspots genome-wide. Here we detect, categorize, and characterize site-specific using 2279 from the Pan-Cancer Analysis Whole Genomes project provide a resource annotated We investigate excess in both protein-coding gene regulatory regions develop measures positive selection functional impact for individual hotspots. Using allele fractions, expression aberrations, mutational signatures, variety genomic features,...
Abstract Bladder cancer is the sixth most common overall, and treatment often involves removal of bladder, which comes with a significant reduction in quality life. Within this type, an easily applicable prognostic biomarker may have clinical utility, potentially stratifying patients into bladder-sparing treatments. Expansion T cell populations targeting cancer-specific neoantigens early response to malignancy. To investigate if receptor (TCR) repertoire could serve as for progression, we...
Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence functional region preferences. As a result, some contexts mutate at much higher rates than others, additional variation found between regions. Mutational hotspots, recurrent across cancer samples, represent genomic positions elevated mutation rates, caused by highly localized processes.We count the 11-mer sequences genome, using...
Abstract T cells represent essential effector in the intrinsic antitumor immune response. Cancer-specific can recognize cancer neoantigens through their cell receptors (TCRs). The expansion of these clones is believed to be an early response malignancy. We hypothesized that landscape offers insights into competency. aimed characterize TCR repertoire patients with bladder and explore correlations disease outcomes. analyzed a cohort 119 muscle-invasive (MIBC) treated chemotherapy followed by...
Summary T cells are one of the primary effector in endogenous defense against cancer, yet clinical impact their quantity, diversity, and dynamics remains underexplored. Here we investigated relevance cell receptor (TCR) repertoire patients with bladder cancer. In advanced-stage low pre-treatment peripheral TCR diversity was associated worse overall survival (p=0.024), particularly when it coincided a fraction circulating (p=0.00049). The low-diversity repertoires were dominated by expanded...
Abstract Background Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show strong sequence regional preferences. As a result, some contexts mutate at much higher rates than others. Mutational hotspots, recurrent across cancer samples, represent genomic positions elevated mutation rates, caused by highly localized processes. Results We analyze the of all 11-mer using PCAWG set 2,583 pan-cancer whole...