The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non‐coding RNA and synonymous mutations

S Diederichs, L Bartsch, JC Berkmann… - EMBO molecular …, 2016 - embopress.org
Cancer is a disease of the genome caused by oncogene activation and tumor suppressor
gene inhibition. Deep sequencing studies including large consortia such as TCGA and …

The rules and impact of nonsense-mediated mRNA decay in human cancers

RGH Lindeboom, F Supek, B Lehner - Nature genetics, 2016 - nature.com
Premature termination codons (PTCs) cause a large proportion of inherited human genetic
diseases. PTC-containing transcripts can be degraded by an mRNA surveillance pathway …

REVIGO summarizes and visualizes long lists of gene ontology terms

F Supek, M Bošnjak, N Škunca, T Šmuc - PloS one, 2011 - journals.plos.org
Outcomes of high-throughput biological experiments are typically interpreted by statistical
testing for enriched gene functional categories defined by the Gene Ontology (GO). The …

[HTML][HTML] Synonymous mutations frequently act as driver mutations in human cancers

F Supek, B Miñana, J Valcárcel, T Gabaldón, B Lehner - Cell, 2014 - cell.com
Synonymous mutations change the sequence of a gene without directly altering the
sequence of the encoded protein. Here, we present evidence that these" silent" mutations …

A pan-cancer analysis of synonymous mutations

Y Sharma, M Miladi, S Dukare, K Boulay… - Nature …, 2019 - nature.com
Synonymous mutations have been viewed as silent mutations, since they only affect the
DNA and mRNA, but not the amino acid sequence of the resulting protein. Nonetheless …

The code of silence: widespread associations between synonymous codon biases and gene function

F Supek - Journal of molecular evolution, 2016 - Springer
Some mutations in gene coding regions exchange one synonymous codon for another, and
thus do not alter the amino acid sequence of the encoded protein. Even though they are …

[HTML][HTML] A role for tRNA modifications in genome structure and codon usage

EM Novoa, M Pavon-Eternod, T Pan, LR de Pouplana - Cell, 2012 - cell.com
Transfer RNA (tRNA) gene content is a differentiating feature of genomes that contributes to
the efficiency of the translational apparatus, but the principles sha** tRNA gene copy …

Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathway

ER Nimmo, JG Prendergast, MC Aldhous… - Inflammatory bowel …, 2012 - academic.oup.com
Background Germline variation in the 71 Crohn's disease (CD) loci implicated by genome-
wide association studies (GWAS) only accounts for approximately 25% of estimated …

The landscape of microbial phenotypic traits and associated genes

M Brbić, M Piškorec, V Vidulin, A Kriško… - Nucleic acids …, 2016 - academic.oup.com
Bacteria and Archaea display a variety of phenotypic traits and can adapt to diverse
ecological niches. However, systematic annotation of prokaryotic phenotypes is lacking. We …

Variation in global codon usage bias among prokaryotic organisms is associated with their lifestyles

M Botzman, H Margalit - Genome biology, 2011 - Springer
Background It is widely acknowledged that synonymous codons are used unevenly among
genes in a genome. In organisms under translational selection, genes encoding highly …