Curr. Opin. Pediatr. 27(6):659-64Scacheri CA, Scacheri PC (2015) Mutations in the noncoding genome. Curr Opin Pediatr 27:659-664. doi:10.1097/mop.0000000000000283Scacheri CA, Scacheri PC. Mutations in the non-coding genome. Curr Opin Pediatr. 2016; 27:659-664....
We next assessed if the changes in transactivation potential induced by noncoding SNVs related to changes in TF binding to CREs by allele-specific ChIP-qPCR32,44,51in LNCaP prostate cancer cells. We observed differential binding of FOXA1, AR, HOXB13, GATA2, and FOXP1 for the chr14:378870...
这些coding mutations是非常靠谱的,我们的pre-ENCC的DEG也是比较靠谱的,我们的大厦的根基就是这两个站点。 有了这两个站点,如何把它们联系到一起呢? 这中间的可能性有无数种。 coding mutation各式各样,在network中的地位和重要性也不一样,对基因表达的影响也不一样,想用单一的规则把variant和gene expression联系...
Hereditary hyperferritinaemia-cataract syndrome (HHCS) is a rare disorder usually caused by heterozygous mutations in the iron-responsive element (IRE) in the 5′ untranslated region (5′UTR) of the L-ferritin gene (FTL), disturbing the binding of iron regulatory proteins (IRPs) and the post-...
largely remained unexplored. We apply whole-genome sequencing (WGS) to identify non-coding mutations, with regulatory potential in GBM, under the hypothesis that regions of evolutionary constraint are likely to be functional, and somatic mutations are likely more damaging than in unconstrained regions....
"We know a lot of the mutations in breast cancercellshappen to be on noncoding regions of the genome," Prasanth said. "If these mutations are contributing to cancer, but are not coding for a protein, what are they doing?" First, the researchers analyzed RNA expression in cells of a ...
Genetic mutations linked to a disease often spell bad news. Mutations in over 25 genes, for example, are associated with amyotrophic lateral sclerosis, or ALS, and they all increase the risk of developing this incurable disorder. Now, a research team hea
Therefore, accurate sequence-based prediction of chromatin features requires a flexible quantitative model capable of modeling such complex dependencies—and those predictions may then be used to estimate functional effects of noncoding variants.基于序列的,可以考虑到更多复杂的情况,这比单纯的依赖现有的motif...
The mutations at splice sites that bracket circRNA-forming exons prevent exon circularization, which indicates that the efficiency of exon circularization relies on the presence of canonical splice sites flanking the exons [22]. CircRNAs are mainly divided into three groups based on their components: ...
The functional consequences of somatic non-coding mutations in ovarian cancer (OC) are unknown. To identify regulatory elements (RE) and genes perturbed by acquired non-coding variants, here we establish epigenomic and transcriptomic landscapes of primary OCs using H3K27ac ChIP-seq and RNA-seq, ...