Related Experiment Video
Updated: May 21, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
RNA-Seq and human complex diseases: recent accomplishments and future perspectives
Valerio Costa1, Marianna Aprile, Roberta Esposito
1Consiglio Nazionale delle Ricerche, Institute of Genetics and Biophysics A. Buzzati-Traverso, Naples, Italy. valerio.costa@igb.cnr.it
European Journal of Human Genetics : EJHG
|June 29, 2012
Summary
Gene expression analysis, particularly RNA-Seq, offers a powerful approach to understanding complex diseases. This method reveals gene variations linked to disease, overcoming limitations of older technologies for conditions like cancer and neurodegenerative diseases.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- Identifying disease-causing mutations is crucial for understanding Mendelian and complex diseases.
- Gene expression analysis provides an unbiased method to investigate disease pathogenesis.
- Traditional technologies have limitations in comprehensively analyzing the transcriptome.
Purpose of the Study:
- To provide an overview of gene expression profiling for complex diseases.
- To highlight the advantages of RNA-Seq over conventional technologies.
- To discuss the role of RNA-Seq in linking nucleotide variations to gene expression changes.
Main Methods:
- Review of gene expression profiling techniques.
- Emphasis on Next-Generation Sequencing (NGS) and RNA-Seq.
- Comparison of RNA-Seq with hybridization- and tag-based technologies.
Main Results:
- RNA-Seq enables identification of novel genes, splice isoforms, RNA editing, fusion transcripts, and allele-specific expression.
- RNA-Seq has been successfully applied in cancer and host-pathogen interactions.
- RNA-Seq is emerging as a key tool for neurodegenerative diseases and quantitative trait loci analysis.
Conclusions:
- RNA-Seq offers significant advantages for studying complex diseases, including cancer and neurodegenerative diseases.
- It facilitates the understanding of disease mechanisms by linking genetic variations to gene expression.
- Further research and discussion on RNA-Seq's limitations are warranted.
Related Concept Videos
03:21RNA-seq
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.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
03:00Next-generation Sequencing
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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
01:26Human Virome
The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
01:57Sanger Sequencing
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
02:02Genomics
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...
02:24Ribosome Profiling
Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique helps...
Applications of ribosome profiling
Ribosome profiling has many applications, including in vivo monitoring of translation inside a particular organ or tissue type and quantifying new protein synthesis levels.
The technique helps...