Preprint Review Version 2 Preserved in Portico This version is not peer-reviewed

Quantifying Transcriptome Diversity: A Review

Version 1 : Received: 12 January 2023 / Approved: 16 January 2023 / Online: 16 January 2023 (01:12:34 CET)
Version 2 : Received: 12 April 2023 / Approved: 13 April 2023 / Online: 13 April 2023 (03:07:07 CEST)

A peer-reviewed article of this Preprint also exists.

Jones, E.F.; Haldar, A.; Oza, V.H.; Lasseigne, B.N. Quantifying Transcriptome Diversity: A Review. Briefings in Functional Genomics 2023, 23, 83–94, doi:10.1093/bfgp/elad019. Jones, E.F.; Haldar, A.; Oza, V.H.; Lasseigne, B.N. Quantifying Transcriptome Diversity: A Review. Briefings in Functional Genomics 2023, 23, 83–94, doi:10.1093/bfgp/elad019.

Abstract

Following the central dogma of molecular biology, gene expression heterogeneity can aid in predicting and explaining the wide variety of protein products, functions, and, ultimately, heterogeneity in phenotypes. There is currently overlapping terminology used to describe the types of diversity in gene expression profiles, and overlooking these nuances can misrepresent important biological information. Here, we describe transcriptome diversity as a measure of the heterogeneity in 1) the expression of all genes within a sample or a single gene across samples in a population (gene-level diversity) or 2) the isoform-specific expression of a given gene (isoform-level diversity). We first overview modulators and quantification of transcriptome diversity at the gene level. Then, we discuss the role alternative splicing plays in driving transcript isoform-level diversity and how it can be quantified. Additionally, we overview computational resources for calculating gene-level and isoform-level diversity for high-throughput sequencing data. Finally, we discuss future applications of transcriptome diversity. This review provides a comprehensive overview of how gene expression diversity arises, and how measuring it determines a more complete picture of heterogeneity across proteins, cells, tissues, organisms, and species.

Keywords

Gene expression; transcriptome diversity; transcriptional variation; transcript diversity; isoform-level diversity; gene-level diversity

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

Comments (1)

Comment 1
Received: 13 April 2023
Commenter: Brittany Lasseigne
Commenter's Conflict of Interests: Author
Comment: We have further clarified terminology and expanded the Conclusion. 
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