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1.
Funct Integr Genomics ; 23(2): 134, 2023 Apr 21.
Article in English | MEDLINE | ID: mdl-37084004

ABSTRACT

In the last decade, transcriptome research adopting next-generation sequencing (NGS) technologies has gathered incredible momentum amongst functional genomics scientists, particularly amongst clinical/biomedical research groups. The progressive enfoldment/adoption of NGS technologies has incited an abundance of next-generation transcriptomic data harbouring an opulence of new knowledge in public databases. Nevertheless, knowledge discovery from these next-generation RNA-Seq. data analysis necessitates extensive bioinformatics know-how besides elaborate data analysis software packages consistent with the type and context of data analysis. Several reliability and reproducibility concerns continue to impede RNA-Seq. data analysis. Characteristic challenges comprise of data quality, hardware and networking provisions, selection and prioritisation of data analysis tools, and yet significantly implementing of robust machine learning algorithms for maximised exploitation of these experimental transcriptomic data. Over the years, numerous machine learning algorithms have been implemented for improved transcriptomic data analysis executing predominantly shallow learning approaches. More recently, deep learning algorithms are becoming more mainstream, and enactment for next-generation RNA-Seq. data analysis could be revolutionary in the coming years in the biomedical domain. In this scoping review, we attempt to determine the existing literature's size and potential nature in deep learning and NGS RNA-Seq. data analysis. An analysis of the contemporary topics of next-generation RNA-Seq. data analysis based on deep learning algorithms is critically reviewed, emphasising open-source resources.


Subject(s)
Deep Learning , RNA-Seq , Reproducibility of Results , Sequence Analysis, RNA , Genomics , Algorithms , High-Throughput Nucleotide Sequencing
2.
Sci Rep ; 13(1): 1618, 2023 01 28.
Article in English | MEDLINE | ID: mdl-36709340

ABSTRACT

The dramatic increase in the number of single-cell RNA-sequence (scRNA-seq) investigations is indeed an endorsement of the new-fangled proficiencies of next generation sequencing technologies that facilitate the accurate measurement of tens of thousands of RNA expression levels at the cellular resolution. Nevertheless, missing values of RNA amplification persist and remain as a significant computational challenge, as these data omission induce further noise in their respective cellular data and ultimately impede downstream functional analysis of scRNA-seq data. Consequently, it turns imperative to develop robust and efficient scRNA-seq data imputation methods for improved downstream functional analysis outcomes. To overcome this adversity, we have designed an imputation framework namely deep generative autoencoder network [DGAN]. In essence, DGAN is an evolved variational autoencoder designed to robustly impute data dropouts in scRNA-seq data manifested as a sparse gene expression matrix. DGAN principally reckons count distribution, besides data sparsity utilizing a gaussian model whereby, cell dependencies are capitalized to detect and exclude outlier cells via imputation. When tested on five publicly available scRNA-seq data, DGAN outperformed every single baseline method paralleled, with respect to downstream functional analysis including cell data visualization, clustering, classification and differential expression analysis. DGAN is executed in Python and is accessible at https://github.com/dikshap11/DGAN .


Subject(s)
High-Throughput Nucleotide Sequencing , Single-Cell Analysis , Sequence Analysis, RNA/methods , Single-Cell Analysis/methods , Cluster Analysis , RNA/genetics , Gene Expression Profiling , Software
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