GENE

SEQUENCING
Group 2 Presentation
REMEMBER:
A gene is a section of DNA (genetic code).

Our genetic code is a blueprint for our bodies.

Just like how different LEGO blocks can create
different structures, our DNA determines how
our bodies are built and function.
 WHAT IS A GENE
SEQUENCING?
The process of determining This techniques allows
scientists to decode the
the exact order of
genetic information
nucleotides in a specific
contained within an
DNA molecule organism’s DNA,
 APPLICATION OF
GENE SEQUENCING
DNA Forensics Evolutionary Biology

Agriculture Metagenomics

Molecular Biology MEdicine and

Cancer Research
 HOW IS GENE
SEQUENCING DONE?
1.DNA has to be cutt-off into
smaller pieces
2. The isolated DNA is transferred to a plate
where the sequencing reaction will take place
3. DNA primers bind to the plasmid DNA
4.Heated to 96 degrees celcius to separate the new DNA
strand from the original strand

THE PROCESS IS REPEATED AGAIN AND AGAIN

Electrical charge is applied and fragment become
arranged by size
Each colored block represents the labeled terminator bases by conveerting
the colors to letters, we get the sequence
REPORTING OF
RESULTS
 GENE DISEASE
a segment of DNA that
contains the instructions
A disease that is associated
for building one or more with the gene
proteins, which are essential
for the structure and
function of the body.

VARIANT
also known as a mutation,
is a change in the DNA
sequence compared to the
reference sequence. Variants
can be benign (having no
effect), pathogenic (causing
disease), or of uncertain
significance.
INHERITANCE
PATTERN
refers to the way a genetic
trait or disorder is passed
down from one generation to
the next. Common inheritance
patterns include autosomal
dominant, autosomal recessive,
X-linked dominant, X-linked
recessive, and mitochondrial.
 ZYGOSITY INHERITED
Zygosity refers to the FROM
genetic constitution of an , indicates the source of a
individual with regard to a genetic variant, specifying
particular gene or genes. It whether it was passed down
describes whether an from one or both parents.
individual has two identical This information helps in
copies of a gene understanding the familial
pattern of a genetic
(homozygous) or two
condition.
different copies
(heterozygous).
 WHAT IS A GENE
SEQUENCING?
The process of determining This techniques allows
scientists to decode the
the exact order of
genetic information
nucleotides in a specific
contained within an
DNA molecule organism’s DNA,
 VARIANT
CLASSIFICATION
Variant classification is the process of determining the
significance of a genetic variant. Variants are classified into
different categories, such as pathogenic, likely pathogenic,
benign, likely benign, or variants of uncertain significance
(VUS), based on criteria such as population frequency,
functional data, and segregation studies.
THANK YOU
Group 2 Presentation