A Brief Guide to Genomics
                     A BRIEF 
GUIDE TO 
GENOMICS
What is 
genomics?
Genomics is the study of whole 
genomes of organisms, and 
incorporates elements from 
genetics. 
Genomics uses a combination of 
recombinant DNA, DNA sequencing 
methods, and bioinformatics to 
sequence, assemble, and analyze 
the structure and function of 
genomes. 
Source: www.ebi.ac.uk
Brief history 
of genomics
DNA was first isolated as early as 
1869, with technological advances 
happening in the 1950s, such as 
creating isotopes and radiolabel 
biological molecules. Also during 
this time, the description of the 
structure of the DNA helix was 
made by scientists James D. 
Watson and Francis H.C. Crick in 
1953.
Source: www.techtarget.com
What is DNA?
Deoxyribonucleic acid (DNA) is the 
chemical compound that contains 
the instructions needed to develop 
and direct the activities of nearly all 
living organisms. 
Source: www.genome.gov
What is the 
Human 
Genome 
Project?
The Human Genome Project, which 
was led at the National Institutes of 
Health (NIH) by the National Human 
Genome Research Institute, 
produced a very high-quality 
version of the human genome 
sequence that is freely available in 
public databases.
Source: www.genome.gov
What are the 
implications 
for medical 
science?
Virtually every human ailment has 
some basis in our genes. Until 
recently, doctors were able to take 
the study of genes, or genetics, 
into consideration only in cases of 
birth defects and a limited set of 
other diseases. 
Source: www.genome.gov
Genetic 
factors
With the vast trove of data about 
human DNA generated by the 
Human Genome Project and other 
genomic research, scientists and 
clinicians have more powerful tools 
to study the role that multiple 
genetic factors acting together and 
with the environment play in much 
more complex diseases. 
Source: www.genome.gov
Genome-
based 
research
Genome-based research is already 
enabling medical researchers to 
develop improved diagnostics, 
more effective therapeutic 
strategies, evidence-based 
approaches for demonstrating 
clinical efficacy, and better 
decision-making tools for patients 
and providers. 
Source: www.genome.gov
People's risk
Genetics remains just one of 
several factors that contribute to 
people's risk of developing most 
common diseases. Diet, lifestyle, 
and environmental exposures also 
come into play for many conditions, 
including many types of cancer. 
Source: www.genome.gov
Genomics 
relies on DNA 
sequencing
Whole genome sequencing entails 
determining the complete DNA 
sequence of an organism's 
genome.
In order to do this, an organism's 
chromosomal DNA (and the DNA 
contained in the mitochondria and 
the chloroplast for plant studies) 
must all be sequenced.
Source: www.techtarget.com
Types of 
genomics
Structural genomics: Aims to 
determine the structure of every 
protein encoded by the genome.
Functional genomics: Aims to 
collect and use data from 
sequencing for describing gene and 
protein functions.
Comparative genomics: Aims to 
compare genomic features between 
different species.
Mutation genomics: Studies the 
genome in terms of mutations that 
occur in a person's DNA or genome.
Source: www.techtarget.com