Hypermutable non-synonymous sites are under stronger negative selection. [PDF]
Mutation rate varies greatly between nucleotide sites of the human genome and depends both on the global genomic location and the local sequence context of a site. In particular, CpG context elevates the mutation rate by an order of magnitude.
Steffen Schmidt +6 more
doaj +1 more source
SNPs located at CpG sites modulate genome-epigenome interaction [PDF]
DNA methylation is an important molecular-level phenotype that links genotypes and complex disease traits. Previous studies have found local correlation between genetic variants and DNA methylation levels (cis-meQTLs). However, general mechanisms underlying cis-meQTLs are unclear.
Zhi, Degui +7 more
openaire +3 more sources
CpG Methylation in Aging: Trajectories of Individual Sites [PDF]
Abstract Age-related changes in methylation in a set of genomic CpGs have been shown to form a kind of molecular clocks of aging – DNA methylation (DNAm) clocks. These markers are usually based on a small set of CpGs in every case, but 1) they rarely overlap between different clocks and 2) they are interchangeable, meaning that one can ...
Meer, Margarita, Levine, Morgan
openaire +1 more source
Prognostic value of PLAGL1-specific CpG site methylation in soft-tissue sarcomas. [PDF]
Soft tissue sarcomas (STS) are rare, complex tumors with a poor prognosis. The identification of new prognostic biomarkers is needed to improve patient management.
Anne-Lise Peille +7 more
doaj +1 more source
MapReduce-Based Parallel Genetic Algorithm for CpG-Site Selection in Age Prediction. [PDF]
Genomic biomarkers such as DNA methylation (DNAm) are employed for age prediction. In recent years, several studies have suggested the association between changes in DNAm and its effect on human age. The high dimensional nature of this type of data significantly increases the execution time of modeling algorithms. To mitigate this problem, we propose a
Momeni Z, Saniee Abadeh M.
europepmc +4 more sources
How much of the variation in the mutation rate along the human genome can be explained? [PDF]
It has been claimed recently that it may be possible to predict the rate of de novo mutation of each site in the human genome with a high degree of accuracy [Michaelson et al. (2012), Cell 151: 143121442]. We show that this claim is unwarranted.
Eyre-Walker, Adam +1 more
core +1 more source
Antigen-adjuvant conjugation is known to enhance antigen-specific T-cell production in vaccine models, but scalable methods are required to generate site-specific conjugation for clinical translation of this technique.
Adam M. Weiss +8 more
doaj +1 more source
Immortalization of T-cells is accompanied by gradual changes in CpG methylation resulting in a profile resembling a subset of T-cell leukemias [PDF]
We have previously described gene expression changes during spontaneous immortalization of T-cells, thereby identifying cellular processes important for cell growth crisis escape and unlimited proliferation. Here, we analyze the same model to investigate
Borssén, Magnus +10 more
core +1 more source
Retrotransposition creates sloping shores: a graded influence of hypomethylated CpG islands on flanking CpG sites [PDF]
Long interspersed elements (LINEs), through both self-mobilization and trans-mobilization of short interspersed elements and processed pseudogenes, have made an indelible impact on the structure and function of the human genome. One consequence is the creation of new CpG islands (CGIs).
Grandi, Fiorella +12 more
openaire +4 more sources
Nasal DNA methylation at three CpG sites predicts childhood allergic disease [PDF]
AbstractChildhood allergic diseases, including asthma, rhinitis and eczema, are prevalent conditions that share strong genetic and environmental components. Diagnosis relies on clinical history and measurements of allergen-specific IgE. We hypothesized that a multi-omics model could accurately diagnose childhood allergic disease. We show that nasal DNA
Merlijn van Breugel +22 more
openaire +7 more sources

