Introduction to Biology
21/05/2024
Recap: Next Generation Sequencing (NGS) Workflow
Application of Genomics
Gene discovery and diagnosis of rare monogenic disorders
Diagnose patients with high-risk genetic errors causing disease. Over 4000 diseases now
have a known single genetic cause, compared to around 50 in 1990.
Single nucleotide polymorphisms, frequently called SNPs (pronounced “snips”), are the
most common type of genetic variation among people.
Identification and diagnosis of genetic factors contributing to common disease
To understand genetic factors for development of common diseases, such as high blood
pressure, diabetes and cancer.
Pharmacogenetics and targeted therapy
Genetic information may be used to
i) predict whether a person will respond to a particular drug
ii) how well they will respond to that drug and
iii) whether they are likely to get any side effects from the use of a specific drug
Application of Genomics
Personalized medicine
Use of our genetic information to tailor health care intervention to our own individual need
Gene therapy
Administration of DNA or RNA in order to correct a genetic abnormality, or modify the
expression of genes
Genome editing
Modify the genome – genome editing can add in, cut out, or replace sections of the DNA
sequence
Transcriptomics
• Transcriptomics is the analysis of the transcriptome.
• Transcriptome is the collection of all ribonucleic acid (RNA) that is present
in a sample (a cell, tissue or organ) at a given time.
• Transcriptomic studies include both messenger (m)RNA molecules, which
reflect the genes that are being actively expressed (as protein products), as
well as the RNAs in a cell that are not translated into a protein (non-coding
RNAs).
How is the Transcriptome measured?
• Analysis of RNAs relies on expertise in next generation sequencing
technologies, all of which currently require RNA to be reverse
transcribed (copied) into complementary DNA (cDNA) for sequencing.
• Until recently, microarrays were the most common technique in use in
research laboratories. It involves binding an array of millions of known
nucleic acid fragments to a solid surface, referred to as a “chip.” The
chip is then bathed with labelled cDNA.
• RNA-seq is current preferred method to measure transcriptome.
How is Transcriptome measured: RNA-seq
Applications of Transcriptomics
Cancer: Gene Expression Panel tests which examine a subset of RNAs have
shown promise in understanding prognosis and guiding treatment decisions in
cancer and are already used for this purpose in breast cancer.
Rare disease: Clinical research studies are examining the utility of performing
transcriptome analysis alongside whole genome or exome sequencing
(WGS/WES) in rare disease. Transcriptomics is showing promise in improving
the number of diagnoses made.
Infectious disease: Analysis of gene expression patterns in patients is being
investigated as a novel tool to assist in the diagnosis and management of
infectious disease, for example distinguishing between bacterial and viral
infections, and predicting the severity of sepsis.
