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Related Concept Videos

RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Updated: Feb 16, 2026

Amplicon Sequencing using the Long-Read Sequencing Technologies
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Amplicon Sequencing using the Long-Read Sequencing Technologies

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Transcriptomics in the era of long-read sequencing.

Carolina Monzó1, Tianyuan Liu2, Ana Conesa3

  • 1Institute for Integrative Systems Biology, Spanish National Research Council, Paterna, Valencia, Spain. carolina.monzo@csic.es.

Nature Reviews. Genetics
|March 29, 2025
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Summary
This summary is machine-generated.

Long-read RNA sequencing offers a powerful, unbiased approach to gene expression analysis, overcoming short-read limitations for full-length transcript discovery. This review details the long-read RNA sequencing workflow, methods, and future prospects.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • RNA sequencing (RNA-seq) revolutionized gene expression analysis, enabling discovery of novel isoforms and splicing events.
  • Short-read sequencing, while advanced, struggles with resolving full-length transcripts and complex isoforms.
  • Long-read sequencing technologies have matured, offering new capabilities for RNA-seq.

Purpose of the Study:

  • To provide a comprehensive overview of the long-read RNA sequencing workflow.
  • To guide researchers through experimental and analytical methods for long-read RNA-seq.
  • To discuss current challenges and future prospects in the field.

Main Methods:

  • Overview of library preparation and sequencing challenges specific to long-read RNA-seq.
  • Detailed examination of core data processing and downstream analysis techniques.
  • Inventory of experimental and analytical methods for long-read RNA-seq.

Main Results:

  • Long-read RNA-seq enables unbiased detection and quantification of gene expression.
  • It overcomes limitations of short-read sequencing in resolving full-length transcripts and complex isoforms.
  • Benchmarking studies are emerging, highlighting strengths and limitations.

Conclusions:

  • Long-read RNA sequencing is a maturing technology with significant potential for transcriptomic studies.
  • Comprehensive resources are needed to facilitate the adoption and understanding of long-read RNA-seq.
  • Further development in instrumentation and analytical methods will enhance its application.