BIO4213

GENOMICS & BIOINFORMATICS

SNPs &
HAPLOTYPES
GROUP MEMBERS

ESTHER DARLINGTON
DARSHANIE JADUBIR
CIDNEY HUTSON
SHAQUILLE REMINGTON
RHEMA JACOB
 DEFINITION
SNPS & HAPLOTYPES

presented by:
ESTHER DARLINGTON
SINGLE NUCLEOTIDE POLYMORPHISMS

SNPs (pronounced "snips")

The most prevalent type of genetic

variation seen in humans.

Each SNP indicates a variation in a

single DNA building block known as a
nucleotide

(Medline Plus, 2022).

 HAPLOTYPE

A haplotype is a physical collection of genetic variants (or

polymorphisms) that are inherited together.

A distinct haplotype often indicates a one-of-a-kind

combination of variations on the same chromosome

(National Human Genome Research Institute, 2022)

THE PREVALENCE OF SNPS

IN THE HUMAN GENOME

presented by:
DARSHANIE JADUBIR
Single Nucleotide Polymorphisms
IN THE HUMAN GENOME

They occur almost once in every 1,000 nucleotides on

average

These variations occur in many individuals; to be classified

as a SNP, a variant is found in at least 1 percent of the
population.

Scientists have found more than 600 million SNPs in

populations around the world. (MedlinePlus, 2022).
THE ROLE OF HAPLOTYPES

IN BIOINFORMATICS ANALYSIS

presented by:
CIDNEY HUTSON
 THE ROLE OF HAPLOTYPES
IN BIOINFORMATICS ANALYSIS

Haplotypes are chromosome sequences that are either retained intact or separated
through time via recombination.
("Definition and Clinical Importance of Haplotypes", 2005)

They are essential for detecting identical-by-descent (IBD) regions that are shared by
two people.

Haplotyping can help detect and repair erroneous or missing sequencing data
 THE ROLE OF HAPLOTYPES
IN BIOINFORMATICS ANALYSIS

Haplotypes, which are more specific than single nucleotide variations, can be used in
prognostics and diagnostics, tumor analysis, and transplantation tissue typing
(Glusman et al., 2014).

They are employed in population genetics research, where they can be used to build a
'tree' of nested groups and see where the lineages diverged (Armstrong, 2021).
 THERE ARE THREE REASONS WHY TAKING
THE PHASED HAPLOTYPE METHOD IS A BETTER OPTION.

REASON #1 REASON #2 REASON #3

The potential genes' protein
products are polypeptide
chains whose folding and
other properties may be
influenced by certain amino
acid combinations.
(Clark, 2004)
Population genetic principles
reveal that haplotypes are
fundamentally organized in
populations.
(Clark, 2004)
Reduction in dimension, the
statistical power of
association tests with
phased data is projected to
improve
(Clark, 2004)

If a single SNP is actually responsible for the causal link between SNPs
and phenotype, the haplotype-based strategy may perform worse than
the one-SNP-at-a-time approach.
 APPLICATION OF

SNPS AND HAPLOTYPE ANALYSIS

presented by:
SHAQUILLE REMINGTON
 APPLICATION OF
SNPS AND HAPLOTYPE ANALYSIS

SNPS ANALYSIS
To Differentiate plant varieties e.g., Mexican Maize
(Caldu et al, 2018)

HAPLOTYPES ANALYSIS
In-plant breeding by combining traits of interest and
develop new varieties e.g., Japanese apple
(Minamikawa et al, 2021).
 COLLECTIVELY,

BOTH SNPS AND HAPLOTYPE ANALYSIS CAN AID IN

To detect differences between individuals or varieties at a

molecular (protein and DNA) level (Genotyping) (Novo, 2019)

Helpful in gene discovery, mapping, and sequencing

Gene function identification

 COLLECTIVELY,

BOTH SNPS AND HAPLOTYPE ANALYSIS CAN AID IN

Useful in finding genes involved in disease and to study how the

variation in DNA sequence of humans respond to pathogens,
chemicals, drugs, vaccines etc.

Individual identification, relationships in a family

In forensic field, Population/ ecological studies, taxonomy, and

evolutionary study of an organism, aquaculture, among many
other biological/ forensic analyses e.g., Cancer.
(Brentnall et al, 2020)
 CONCLUSION

They are genetic markers and

SNP’s are positions in the
are used for genetic analysis.
genome for which we find
variation within a population
They can be applied along a
whereas,
wide scope of studies eg.
Biological, biochemical,
Haplotypes are the combination
Agricultural, among others.
of alleles for different SNP’s
along the same chromosome.
To further analyze SNP’s RFLP,
RAPD and/ AFLP is used.
(Bhattacharjee, 2015)
Thank You!
REFERENCES