Polymorphisms investigated in the discovery cohort.Amit, A. Negandhi
PTC-RT process.aRibosome encounters premature termination codon (PTC); the site is recognized by the translation termination machinery and the polypeptide elongation is prematurely terminated.bAfter addition of readthrough compound, translational machinery decodes PTC (PTC is recognized by nc- tRNAs), ...
In the discovery cohort (GSE25055) with bulk transcriptome data, the differentially expressed genes (DEGs) between NAC resistant and sensitive groups were identified using the R package limma, with |log2FC |>0.585 and FDR < 0.05. For single-cell data, cell-specific genes were first identi...
In both cohorts, a higher number of genomic alterations were detected in patients with pCR, and alterations within one or more of 3 genes, ATM, RB1, and FANCC, were associated with response in both cohorts and with improved OS in the discovery cohort [25]. Whole exome sequencing was ...
concentrations over time in both liver and brain samples (P = 0.01). Finally, even greater accumulation of MNPs was observed in a cohort of decedent brains with documented dementia diagnosis, with notable deposition in cerebrovascular walls and immune cells. These results highlight a critical ...
However, the scale and heterogeneous nature of multi-modal data makes integration and inference a non-trivial task. We developed a deep-learning-based framework, multi-omics variational autoencoders (MOVE), to integrate such data and applied it to a cohort of 789 people with newly diagnosed ...
Neuroimaging in Ischemic Stroke Is Different Between Men and Women in the DEFUSE 3 Cohort 女性有更好的侧支循环、更小的基线梗死核心和更慢的缺血性核心增长的影像学证据,提示前循环大动脉闭塞的血流动力学特征存在性别差异。 基于ASL的脑卒中半暗带组织的深度学习检测 ...
First, the discovery cohort (Figures 2E and S2E), including all epithelial cells from both its normal biopsies and polyps. Second, the validation cohort (Figures 2E and S2E), including all epithelial cells from both its normal biopsies and polyps. Third, the epithelial VUMC polyp-specific ...
applied a well-established functional community decomposition to summarize surface-wide findings18, and found reductions in the DMN core network (false discovery rate qFDR < 0.05), whereas sensory-motor communities showed marginal increases (puncorrected < 0.05; Fig.1d). ...
P. et al. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation: a prospective cohort study in men in eastern Finland. Circulation 100, 1274–1279 (1999). Article CAS Google Scholar Gaenzer, H. et al. Association between increased iron ...