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RNA-Seq technology offers new high-throughput ways for transcript identification and quantification based on short reads, and has recently attracted great interest. The problem is usually modeled by a weighted splicing graph whose nodes…

定量方法 · 定量生物学 2013-08-02 Alexandru I. Tomescu , Anna Kuosmanen , Romeo Rizzi , Veli Mäkinen

Late diagnosis and high costs are key factors that negatively impact the care of cancer patients worldwide. Although the availability of biological markers for the diagnosis of cancer type is increasing, costs and reliability of tests…

机器学习 · 计算机科学 2019-08-20 Sterling Ramroach , Melford John , Ajay Joshi

Noncoding RNAs are integral to a wide range of biological processes, including translation, gene regulation, host-pathogen interactions and environmental sensing. While genomics is now a mature field, our capacity to identify noncoding RNA…

The lack of well-structured metadata annotations complicates there-usability and interpretation of the growing amount of publicly available RNA expression data. The machine learning-based prediction of metadata(data augmentation) can…

机器学习 · 计算机科学 2019-09-27 Jelena Fiosina , Maksims Fiosins , Stefan Bonn

Background and Objective: The massive parallel sequencing technology facilitates new discoveries in terms of transcript differential analysis; however, all the new findings must be validated, since the diversity of transcript expression may…

Motivation: Alternative splicing is an important mechanism in which the regions of pre-mRNAs are differentially joined in order to form different transcript isoforms. Alternative splicing is involved in the regulation of normal…

定量方法 · 定量生物学 2016-05-26 Hande Topa , Antti Honkela

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

机器学习 · 统计学 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

DNA microarray experiments, a well-established experimental technique, aim at understanding the function of genes in some biological processes. One of the most common experiments in functional genomics research is to compare two groups of…

统计方法学 · 统计学 2007-08-22 Javier Cabrera , Ching-Ray Yu

RNA-Seq and gene expression microarrays provide comprehensive profiles of gene activity, but lack of reproducibility has hindered their application. A key challenge in the data analysis is the normalization of gene expression levels, which…

种群与进化 · 定量生物学 2017-03-10 Carlos P. Roca , Susana I. L. Gomes , Mónica J. B. Amorim , Janeck J. Scott-Fordsmand

The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be…

基因组学 · 定量生物学 2015-08-03 Gael P. Alamancos , Eneritz Agirre , Eduardo Eyras

Genome-wide gene expression profiles, as measured with microarrays or RNA-Seq experiments, have revolutionized biological and biomedical research by providing a quantitative measure of the entire mRNA transcriptome. Typically, researchers…

应用统计 · 统计学 2013-08-01 Neil R. Clark , Kevin Hu , Edward Y. Chen , Qioanan Duan , Avi Ma`ayan

Cell populations are never truly homogeneous; individual cells exist in biochemical states that define functional differences between them. New technology based on microfluidic arrays combined with multiplexed quantitative polymerase chain…

Background: The availability of high throughput methods for measurement of mRNA concentrations makes the reliability of conclusions drawn from the data and global quality control of samples and hybridization important issues. We address…

定量方法 · 定量生物学 2007-05-23 S. Bilke , T. Breslin , M. Sigvardsson

Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cells without sample pooling or RNA extraction. Currently, there is no algorithm optimized…

Genome annotation is an important issue in biology which has long been addressed with gene prediction methods and manual experiments requiring biological expertise. The expanding Next Generation Sequencing technologies and their enhanced…

统计计算 · 统计学 2013-07-02 Alice Cleynen , Michel Koskas , Emilie Lebarbier , Guillem Rigaill , Stephane Robin

High-throughput RNA-sequencing (RNA-seq) technologies are powerful tools for understanding cellular state. Often it is of interest to quantify and summarize changes in cell state that occur between experimental or biological conditions.…

统计方法学 · 统计学 2021-02-16 Andrew Jones , F. William Townes , Didong Li , Barbara E. Engelhardt

Given a multiple testing situation, the null hypotheses that appear to have sufficiently low probabilities of truth may be rejected using a simple, nonparametric method of decision theory. This applies not only to posterior levels of…

概率论 · 数学 2025-10-20 David R. Bickel

Single-cell RNA-seq data are challenging because of the sparseness of the read counts, the tiny expression of many relevant genes, and the variability in the efficiency of RNA extraction for different cells. We consider a simple…

统计方法学 · 统计学 2020-02-10 Silvia Giulia Galfre' , Francesco Morandin

Genomics biobanks are information treasure troves with thousands of phenotypes (e.g., diseases, traits) and millions of single nucleotide polymorphisms (SNPs). The development of methodologies that provide reproducible discoveries is…

统计方法学 · 统计学 2024-10-08 Jasin Machkour , Michael Muma , Daniel P. Palomar

Data augmentation (DA) can significantly strengthen the electroencephalogram (EEG)-based seizure prediction methods. However, existing DA approaches are just the linear transformations of original data and cannot explore the feature space…

信号处理 · 电气工程与系统科学 2024-12-10 Kai Shu , Le Wu , Yuchang Zhao , Aiping Liu , Ruobing Qian , Xun Chen