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基于非参数泊松混合的 Fisher–Pitman 置换检验及其单细胞基因组学应用AI 解读

This article investigates the theoretical and empirical performance of Fisher-Pitman-type permutation tests for assessing the equality of unknown Poisson mixture distributions. Building on nonparametric maximum likelihood estimators (NPMLEs) of the mixing distribution, these tests are theoretically shown to be able to adapt to complicated unspecified structures of count data and also consistent against their corresponding ANOVA-type alternatives; the latter is a result in…

高维遗传通路分析的统计推断AI 解读

Summary Genetic pathway analysis has become an important tool for investigating the association between a group of genetic variants and traits. With dense genotyping and extensive imputation, the number of genetic variants in biological pathways has increased considerably and sometimes exceeds the sample size $n$. Conducting genetic pathway analysis and statistical inference in such settings is challenging. We introduce an approach that can handle pathways whose dimension $p$…

通过系数调整改进并显式化代理变量分析AI 解读

Unobserved environmental, demographic and technical factors canadversely affect the estimation and testing of the effects ofprimary variables. Surrogate variable analysis, proposed to tacklethis problem, has been widely used in genomic studies. To estimatehidden factors that are correlated with the primary variables,surrogate variable analysis performs principal component analysiseither on a subset of features or on all features, but weightingeach differently. However,…

IsoDOT：针对分类或连续协变量的 RNA 异构体差异表达与使用检验AI 解读

We have developed a statistical method named IsoDOT to assess differential isoform expression (DIE) and differential isoform usage (DIU) using RNA-seq data. Here isoform usage refers to relative isoform expression given the total expression of the corresponding gene. IsoDOT performs two tasks that cannot be accomplished by existing methods: to test DIE/DIU with respect to a continuous covariate, and to test DIE/DIU for one case versus one control. The latter task is not an…

Studies of expression quantitative trait loci (eQTLs) offer insight into the molecular mechanisms of loci that were found to be associated with complex diseases and the mechanisms can be classified into cis- and trans-acting regulation. At present, high-throughput RNA sequencing (RNA-seq) is rapidly replacing expression microarrays to assess gene expression abundance. Unlike microarrays that only measure the total expression of each gene, RNA-seq also provides information on…

DAE-seq 数据分析：变量选择与观测依赖建模AI 解读

In DAE (DNA After Enrichment)-seq experiments, genomic regions related with certain biological processes are enriched/isolated by an assay and are then sequenced on a high-throughput sequencing platform to determine their genomic positions. Statistical analysis of DAE-seq data aims to detect genomic regions with significant aggregations of isolated DNA fragments ("enriched regions") versus all the other regions ("background"). However, many confounding factors may influence…