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A Bioinformatics Pipeline for Investigating Molecular Evolution and Gene Expression using RNA-seq
Published on: May 28, 2021
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Practical selection of representative sets of RNA-seq samples using a hierarchical approach
Laura H Tung1, Carl Kingsford1
1Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
Bioinformatics (Oxford, England)
|July 12, 2021
Summary
Selecting representative RNA-sequencing (RNA-seq) samples is crucial for unbiased bioinformatics tool evaluation. Our hierarchical method efficiently identifies representative RNA-seq subsets from large databases, outperforming random sampling.
Area of Science:
- Bioinformatics
- Computational Biology
- Genomics
Background:
- RNA-sequencing (RNA-seq) data is abundant in public databases.
- Evaluating bioinformatics tools requires representative sample sets, but existing methods struggle with large datasets.
- Current sequence-based methods for selecting representative RNA-seq samples face memory and runtime challenges.
Purpose of the Study:
- To develop an efficient computational method for selecting representative RNA-seq samples from large databases.
- To enable comprehensive and unbiased evaluation of RNA-seq analysis tools.
- To overcome the computational limitations of direct similarity matrix computation.
Main Methods:
- Developed 'hierarchical representative set selection,' a novel divide-and-conquer algorithm.
- Applied a hierarchical approach to break down the selection process into manageable sub-selections.
- Utilized k-mer counting for sequence-based similarity assessment within a hierarchical framework.
Main Results:
- Hierarchical representative set selection achieves summarization quality comparable to direct methods.
- Achieved significant reductions in runtime (up to 8.4x) and memory usage (up to 5.35x).
- Demonstrated superior performance over random sampling on large RNA-seq datasets from the Sequence Read Archive (SRA).
Conclusions:
- Hierarchical representative set selection offers a practical and scalable solution for representative subset selection from large RNA-seq databases.
- The method facilitates more efficient and thorough evaluation of bioinformatics tools.
- Enables robust analysis of large-scale genomic data.

