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Most human protein-coding genes can be transcribed into multiple possible distinct mRNA isoforms. These alternative splicing patterns encourage molecular diversity and dysregulation of isoform expression plays an important role in disease…

Quantitative Methods · Quantitative Biology 2018-05-09 Derek Aguiar , Li-Fang Cheng , Bianca Dumitrascu , Fantine Mordelet , Athma A Pai , Barbara E Engelhardt

Gene set analysis, a popular approach for analyzing high-throughput gene expression data, aims to identify sets of related genes that show significantly enriched or depleted expression patterns between different conditions. In the last…

The linking genotype to phenotype is the fundamental aim of modern genetics. We focus on study of links between gene expression data and phenotype data through integrative analysis. We propose three approaches. 1) The inherent complexity of…

Quantitative Methods · Quantitative Biology 2015-06-30 Min Xu

Due to recent breakthroughs in state-of-the-art DNA sequencing technology, genomics data sets have become ubiquitous. The emergence of large-scale data sets provides great opportunities for better understanding of genomics, especially gene…

Genomics · Quantitative Biology 2020-12-18 Wei Cheng , Ghulam Murtaza , Aaron Wang

Bayesian inference affords scientists with powerful tools for testing hypotheses. One of these tools is the Bayes factor, which indexes the extent to which support for one hypothesis over another is updated after seeing the data. Part of…

Computation · Statistics 2018-12-11 Thomas J. Faulkenberry

Ultra high-throughput sequencing of transcriptomes (RNA-Seq) is a widely used method for quantifying gene expression levels due to its low cost, high accuracy and wide dynamic range for detection. However, the nature of RNA-Seq makes it…

Methodology · Statistics 2016-08-30 Hui Jiang , Tianyu Zhan

Many modern biological assays, including RNA sequencing, yield integer-valued counts that reflect the number of molecules detected. These measurements are often not at the desired resolution: while the unit of interest is typically a single…

Machine Learning · Computer Science 2026-03-06 Nic Fishman , Gokul Gowri , Tanush Kumar , Jiaqi Lu , Valentin de Bortoli , Jonathan S. Gootenberg , Omar Abudayyeh

Disease subtype identification (clustering) is an important problem in biomedical research. Gene expression profiles are commonly utilized to infer disease subtypes, which often lead to biologically meaningful insights into disease. Despite…

Methodology · Statistics 2016-09-27 Jiehuan Sun , Joshua L. Warren , Hongyu Zhao

Computational analysis methods including machine learning have a significant impact in the fields of genomics and medicine. High-throughput gene expression analysis methods such as microarray technology and RNA sequencing produce enormous…

Genomics · Quantitative Biology 2022-09-28 Nikita Bhandari , Rahee Walambe , Ketan Kotecha , Satyajeet Khare

Much of the natural variation for a complex trait can be explained by variation in DNA sequence levels. As part of sequence variation, gene-gene interaction has been ubiquitously observed in nature, where its role in shaping the development…

Applications · Statistics 2012-10-01 Shaoyu Li , Yuehua Cui

Genetic recombination can produce heterogeneous phylogenetic histories within a set of homologous genes. Delineating recombination events is important in the study of molecular evolution, as inference of such events provides a clearer…

Populations and Evolution · Quantitative Biology 2007-09-13 Cheong Xin Chan , Robert G. Beiko , Mark A. Ragan

Stochastic models of gene expression are typically formulated using the chemical master equation, which can be solved exactly or approximately using a repertoire of analytical methods. Here, we provide a tutorial review of an alternative…

Subcellular Processes · Quantitative Biology 2024-04-19 Juraj Szavits-Nossan , Ramon Grima

Single-cell RNA-sequencing technologies may provide valuable insights to the understanding of the composition of different cell types and their functions within a tissue. Recent technologies such as spatial transcriptomics, enable the…

Applications · Statistics 2023-05-16 Arhit Chakrabarti , Yang Ni , Bani K. Mallick

We consider the problems of hypothesis testing and model comparison under a flexible Bayesian linear regression model whose formulation is closely connected with the linear mixed effect model and the parametric models for SNP set analysis…

Methodology · Statistics 2015-02-24 Xiaoquan Wen

Gene expression is a central process to any form of life. It involves multiple temporal and functional scales that extend from specific protein-DNA interactions to the coordinated regulation of multiple genes in response to intracellular…

Molecular Networks · Quantitative Biology 2013-07-11 Jose M. G. Vilar , Leonor Saiz

RNA-Seq data characteristically exhibits large variances, which need to be appropriately accounted for in the model. We first explore the effects of this variability on the maximum likelihood estimator (MLE) of the overdispersion parameter…

Methodology · Statistics 2015-12-03 Luis Leon-Novelo , Claudio Fuentes , Sarah Emerson

A key problem in computational biology is discovering the gene expression changes that regulate cell fate transitions, in which one cell type turns into another. However, each individual cell cannot be tracked longitudinally, and cells at…

Machine Learning · Computer Science 2022-07-12 Yichen Gu , David Blaauw , Joshua Welch

Measuring gene expression simultaneously in both hosts and symbionts offers a powerful approach to explore the biology underlying species interactions. Such dual or simultaneous RNAseq approaches have primarily been used to gain insight…

Populations and Evolution · Quantitative Biology 2022-06-28 Amanda K Hund , Peter Tiffin , Jean-Gabriel Young , Daniel I Bolnick

The chemical master equation (CME), which describes the discrete and stochastic molecule number dynamics associated with biological processes like transcription, is difficult to solve analytically. It is particularly hard to solve for…

Subcellular Processes · Quantitative Biology 2021-03-23 John J. Vastola , Gennady Gorin , Lior Pachter , William R. Holmes

High throughput technologies have become the practice of choice for comparative studies in biomedical applications. Limited number of sample points due to sequencing cost or access to organisms of interest necessitates the development of…

Methodology · Statistics 2018-07-17 Ariana Broumand , Siamak Zamani Dadaneh