SNPs

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

SNPs

Uploaded by

Copyright:

Available Formats

SNPs

Uploaded by

Document Information

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

SNPs

Uploaded by

Copyright:

Available Formats

BIO4213

GENOMICS & BIOINFORMATICS

SNPs (pronounced "snips")

The most prevalent type of genetic

Each SNP indicates a variation in a

(Medline Plus, 2022).

A haplotype is a physical collection of genetic variants (or

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

(National Human Genome Research Institute, 2022)

IN THE HUMAN GENOME

They occur almost once in every 1,000 nucleotides on

These variations occur in many individuals; to be classified

Scientists have found more than 600 million SNPs in

REASON #1 REASON #2 REASON #3

SNPS AND HAPLOTYPE ANALYSIS

BOTH SNPS AND HAPLOTYPE ANALYSIS CAN AID IN

To detect differences between individuals or varieties at a

Helpful in gene discovery, mapping, and sequencing

Gene function identification

BOTH SNPS AND HAPLOTYPE ANALYSIS CAN AID IN

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

Individual identification, relationships in a family

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

They are genetic markers and

You might also like