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- 저자 : Junying Jiang (검색결과 2 건)
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SM-RCNV: a statistical method to detect recurrent copy number variations in sequenced samples
Yaoyao Li,Xiguo Yuan,Junying Zhang,Liying Yang,Jun Bai,Shan Jiang 한국유전학회 2019 Genes & Genomics Vol.41 No.5
Background Copy number variation (CNV) is an important form of genomic structural variation and is linked to dozens of human diseases. Using next-generation sequencing (NGS) data and developing computational methods to characterize such structural variants is significant for understanding the mechanisms of diseases. Objective The objective of this study is to develop a new statistical method of detection recurrent CNVs across multiple samples from genomic sequences. Methods A statistical method is carried out to detect recurrent CNVs, referred to as SM-RCNV. This method uses a statistic associated with each location by combining the frequency of variation at one location across whole samples and the correlation among consecutive locations. The weights of the frequency and correlation are trained using real datasets with known CNVs. P-value is assessed for each location on the genome by permutation testing. Results Compared with six peer methods, SM-RCNV outperforms the peer methods under receiver operating characteristic curves. SM-RCNV successfully identifies many consistent recurrent CNVs, most of which are known to be of biological significance and associated with diseased genes. The validation rate of SM-RCNV in the CEU call set and YRI call set with Database of Genomic Variants are 258/328 (79%) and (157/309) 51%, respectively. Conclusion SM-RCNV is a well-grounded statistical framework for detecting recurrent CNVs from multiple genomic sequences, providing valuable information to study genomes in human diseases. The source code is freely available at https ://sourc eforg e.net/proje cts/sm-rcnv/.
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Xiaorong Yu,Rui Zhang,Cunsheng Wei,Yuanyuan Gao,Yanhua Yu,Lin Wang,Junying Jiang,Xuemei Zhang,Junrong Li,Xuemei Chen 한국통합생물학회 2021 Animal cells and systems Vol.25 No.2
Monocarboxylate transporter 2 (MCT2) is the predominant monocarboxylate transporter expressed by neurons. MCT2 plays an important role in brain energy metabolism. Stroke survivors are at high risk of cognitive impairment. We reported previously that stroke-induced cognitive impairment was related to impaired energy metabolism. In the present study, we report that cognitive function was impaired after stroke in rats. We found that MCT2 expression, but not that of MCT1 or MCT4, was markedly decreased in the rat hippocampus at 7 and 28 days after transient middle cerebral artery occlusion (tMCAO). Moreover, MCT2 overexpression promoted recovery of cognitive function after stroke. The molecular mechanism underlying these effects may be related to an increase in adenosine monophosphate-activated protein kinase-mediated mitochondrial biogenesis induced by overexpression of MCT2. Our findings suggest that MCT2 activation ameliorates cognitive impairment after stroke.
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