Human HeredityPub Date : 2019-08-14DOI: 10.1159/000501481
Xuhui Zhu, J. Shang, Y. Sun, Feng Li, Jin-Xing Liu, Shasha Yuan
{"title":"PSO-CFDP: A Particle Swarm Optimization-Based Automatic Density Peaks Clustering Method for Cancer Subtyping","authors":"Xuhui Zhu, J. Shang, Y. Sun, Feng Li, Jin-Xing Liu, Shasha Yuan","doi":"10.1159/000501481","DOIUrl":"https://doi.org/10.1159/000501481","url":null,"abstract":"Cancer subtyping is of great importance for the prediction, diagnosis, and precise treatment of cancer patients. Many clustering methods have been proposed for cancer subtyping. In 2014, a clustering algorithm named Clustering by Fast Search and Find of Density Peaks (CFDP) was proposed and published in Science, which has been applied to cancer subtyping and achieved attractive results. However, CFDP requires to set two key parameters (cluster centers and cutoff distance) manually, while their optimal values are difficult to be determined. To overcome this limitation, an automatic clustering method named PSO-CFDP is proposed in this paper, in which cluster centers and cutoff distance are automatically determined by running an improved particle swarm optimization (PSO) algorithm multiple times. Experiments using PSO-CFDP, as well as LR-CFDP, STClu, CH-CCFDAC, and CFDP, were performed on four benchmark datasets and two real cancer gene expression datasets. The results show that PSO-CFDP can determine cluster centers and cutoff distance automatically within controllable time/cost and, therefore, improve the accuracy of cancer subtyping.","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"9 - 20"},"PeriodicalIF":1.8,"publicationDate":"2019-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000501481","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45683405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human HeredityPub Date : 2019-04-01DOI: 10.1159/000500054
W. Wiersinga, G. Kahaly, V. Blanchette, L. Brandão, V. Breakey, S. Revel-Vilk
{"title":"Front & Back Matter","authors":"W. Wiersinga, G. Kahaly, V. Blanchette, L. Brandão, V. Breakey, S. Revel-Vilk","doi":"10.1159/000500054","DOIUrl":"https://doi.org/10.1159/000500054","url":null,"abstract":"","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2019-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46553152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human HeredityPub Date : 2019-01-01Epub Date: 2020-09-23DOI: 10.1159/000508664
Lei Zhang, Charalampos Papachristou, Pankaj K Choudhary, Swati Biswas
{"title":"A Bayesian Hierarchical Framework for Pathway Analysis in Genome-Wide Association Studies.","authors":"Lei Zhang, Charalampos Papachristou, Pankaj K Choudhary, Swati Biswas","doi":"10.1159/000508664","DOIUrl":"https://doi.org/10.1159/000508664","url":null,"abstract":"<p><strong>Background: </strong>Pathway analysis allows joint consideration of multiple SNPs belonging to multiple genes, which in turn belong to a biologically defined pathway. This type of analysis is usually more powerful than single-SNP analyses for detecting joint effects of variants in a pathway.</p><p><strong>Methods: </strong>We develop a Bayesian hierarchical model by fully modeling the 3-level hierarchy, namely, SNP-gene-pathway that is naturally inherent in the structure of the pathways, unlike the currently used ad hoc ways of combining such information. We model the effects at each level conditional on the effects of the levels preceding them within the generalized linear model framework. To deal with the high dimensionality, we regularize the regression coefficients through an appropriate choice of priors. The model is fit using a combination of iteratively weighted least squares and expectation-maximization algorithms to estimate the posterior modes and their standard errors. A normal approximation is used for inference.</p><p><strong>Results: </strong>We conduct simulations to study the proposed method and find that our method has higher power than some standard approaches in several settings for identifying pathways with multiple modest-sized variants. We illustrate the method by analyzing data from two genome-wide association studies on breast and renal cancers.</p><p><strong>Conclusion: </strong>Our method can be helpful in detecting pathway association.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 6","pages":"240-255"},"PeriodicalIF":1.8,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000508664","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38414153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human HeredityPub Date : 2019-01-01Epub Date: 2020-09-09DOI: 10.1159/000509280
Xu Hui, Hisham Al-Ward, Fahmi Shaher, Chun-Yang Liu, Ning Liu
{"title":"The Role of miR-210 in the Biological System: A Current Overview.","authors":"Xu Hui, Hisham Al-Ward, Fahmi Shaher, Chun-Yang Liu, Ning Liu","doi":"10.1159/000509280","DOIUrl":"https://doi.org/10.1159/000509280","url":null,"abstract":"<p><strong>Background: </strong>MicroRNAs (miRNAs) represent a group of non-coding RNAs measuring 19-23 nucleotides in length and are recognized as powerful molecules that regulate gene expression in eukaryotic cells. miRNAs stimulate the post-transcriptional regulation of gene expression via direct or indirect mechanisms.</p><p><strong>Summary: </strong>miR-210 is highly upregulated in cells under hypoxia, thereby revealing its significance to cell endurance. Induction of this mRNA expression is an important feature of the cellular low-oxygen response and the most consistent and vigorous target of HIF. Key Message: miR-210 is involved in many cellular functions under the effect of HIF-1α, including the cell cycle, DNA repair, immunity and inflammation, angiogenesis, metabolism, and macrophage regulation. It also plays an important regulatory role in T-cell differentiation and stimulation.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 6","pages":"233-239"},"PeriodicalIF":1.8,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000509280","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38458660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Contribution Plot: Decomposition and Graphical Display of the RV Coefficient, with Application to Genetic and Brain Imaging Biomarkers of Alzheimer's Disease.","authors":"JinCheol Choi, Donghuan Lu, Mirza Faisal Beg, Jinko Graham, Brad McNeney","doi":"10.1159/000501334","DOIUrl":"10.1159/000501334","url":null,"abstract":"<p><strong>Background/aims: </strong>Alzheimer's disease (AD) is a chronic neurodegenerative disease that causes memory loss and a decline in cognitive abilities. AD is the sixth leading cause of death in the USA, affecting an estimated 5 million Americans. To assess the association between multiple genetic variants and multiple measurements of structural changes in the brain, a recent study of AD used a multivariate measure of linear dependence, the RV coefficient. The authors decomposed the RV coefficient into contributions from individual variants and displayed these contributions graphically.</p><p><strong>Methods: </strong>We investigate the properties of such a \"contribution plot\" in terms of an underlying linear model, and discuss shrinkage estimation of the components of the plot when the correlation signal may be sparse.</p><p><strong>Results: </strong>The contribution plot is applied to simulated data and to genomic and brain imaging data from the Alzheimer's Disease Neuroimaging Initiative (ADNI).</p><p><strong>Conclusions: </strong>The contribution plot with shrinkage estimation can reveal truly associated explanatory variables.</p>","PeriodicalId":13226,"journal":{"name":"Human Heredity","volume":"84 1","pages":"59-72"},"PeriodicalIF":1.1,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48183543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}