Dataset Information

A New Machine Learning-Based Framework for Mapping Uncertainty Analysis in RNA-Seq Read Alignment and Gene Expression Estimation.

ABSTRACT: One of the main benefits of using modern RNA-Sequencing (RNA-Seq) technology is the more accurate gene expression estimations compared with previous generations of expression data, such as the microarray. However, numerous issues can result in the possibility that an RNA-Seq read can be mapped to multiple locations on the reference genome with the same alignment scores, which occurs in plant, animal, and metagenome samples. Such a read is so-called a multiple-mapping read (MMR). The impact of these MMRs is reflected in gene expression estimation and all downstream analyses, including differential gene expression, functional enrichment, etc. Current analysis pipelines lack the tools to effectively test the reliability of gene expression estimations, thus are incapable of ensuring the validity of all downstream analyses. Our investigation into 95 RNA-Seq datasets from seven plant and animal species (totaling 1,951 GB) indicates an average of roughly 22% of all reads are MMRs. Here we present a machine learning-based tool called GeneQC (Gene expression Quality Control), which can accurately estimate the reliability of each gene's expression level derived from an RNA-Seq dataset. The underlying algorithm is designed based on extracted genomic and transcriptomic features, which are then combined using elastic-net regularization and mixture model fitting to provide a clearer picture of mapping uncertainty for each gene. GeneQC allows researchers to determine reliable expression estimations and conduct further analysis on the gene expression that is of sufficient quality. This tool also enables researchers to investigate continued re-alignment methods to determine more accurate gene expression estimates for those with low reliability. Application of GeneQC reveals high level of mapping uncertainty in plant samples and limited, severe mapping uncertainty in animal samples. GeneQC is freely available at http://bmbl.sdstate.edu/GeneQC/home.html.

SUBMITTER: McDermaid A

PROVIDER: S-EPMC6102479 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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A New Machine Learning-Based Framework for Mapping Uncertainty Analysis in RNA-Seq Read Alignment and Gene Expression Estimation.

McDermaid Adam A Chen Xin X Zhang Yiran Y Wang Cankun C Gu Shaopeng S Xie Juan J Ma Qin Q

Frontiers in genetics 20180814

One of the main benefits of using modern RNA-Sequencing (RNA-Seq) technology is the more accurate gene expression estimations compared with previous generations of expression data, such as the microarray. However, numerous issues can result in the possibility that an RNA-Seq read can be mapped to multiple locations on the reference genome with the same alignment scores, which occurs in plant, animal, and metagenome samples. Such a read is so-called a multiple-mapping read (MMR). The impact of th ...[more]

PMID: 30154828

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Project description:BackgroundAccurate estimation of historical PM2.5 (particle matter with an aerodynamic diameter of less than 2.5μm) is critical and essential for environmental health risk assessment.ObjectivesThe aim of this study was to develop a multiple-level stacked ensemble machine learning framework for improving the estimation of the daily ground-level PM2.5 concentrations.MethodsAn innovative deep ensemble machine learning framework (DEML) was developed to estimate the daily PM2.5 concentrations. The framework has a three-stage structure: At the first stage, four base models [gradient boosting machine (GBM), support vector machine (SVM), random forest (RF), and eXtreme gradient boosting (XGBoost)] were used to generate a new data set of PM2.5 concentrations for training the next-stage learners. At the second stage, three meta-models [RF, XGBoost, and Generalized Linear Model (GLM)] were used to estimate PM2.5 concentrations using a combination of the original data set and the predictions from the first-stage models. At the third stage, a nonnegative least squares (NNLS) algorithm was employed to obtain the optimal weights for PM2.5 estimation. We took the data from 133 monitoring stations in Italy as an example to implement the DEML to predict daily PM2.5 at each 1km×1km grid cell from 2015 to 2019 across Italy. We evaluated the model performance by performing 10-fold cross-validation (CV) and compared it with five benchmark algorithms [GBM, SVM, RF, XGBoost, and Super Learner (SL)].ResultsThe results revealed that the PM2.5 prediction performance of DEML [coefficients of determination (R2)=0.87 and root mean square error (RMSE)=5.38μg/m3] was superior to any benchmark models (with R2 of 0.51, 0.76, 0.83, 0.70, and 0.83 for GBM, SVM, RF, XGBoost, and SL approach, respectively). DEML displayed reliable performance in capturing the spatiotemporal variations of PM2.5 in Italy.DiscussionThe proposed DEML framework achieved an outstanding performance in PM2.5 estimation, which could be used as a tool for more accurate environmental exposure assessment. https://doi.org/10.1289/EHP9752.

Dataset Information

A New Machine Learning-Based Framework for Mapping Uncertainty Analysis in RNA-Seq Read Alignment and Gene Expression Estimation.

Publications

A New Machine Learning-Based Framework for Mapping Uncertainty Analysis in RNA-Seq Read Alignment and Gene Expression Estimation.

Similar Datasets

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