whole genome sequence

1. Whole Genome Sequence

2. Content
 Introduction
 Methods
 Applications
 Pros and cons
 Conclusion

3. 1953
 Complete copy of chromosomal
and extra chromosomal gene
instruction.
 Breaking the whole genome into
small pieces, sequencing the
pieces and then reassembling
them into proper order.
1977
 Sequencing means to determine the primary
structure of an unbranched biopolymer.
 Sequencing results in a symbolic linear
depiction known as a sequence which
succinctly summarizes much of the atomic-
level structure of the sequenced molecule.
1970
Genome Sequencing Genome
Sequencing

4. Whole Genome Sequencing:
“Whole-genome sequencing is the analysis of
the entire genomic DNA sequence of a cell at a
single time, providing the most comprehensive
characterization of the genome.”

5. 3.WGS should not be confused
with methods that sequence
specific subset of genome.
4. WGS should not be confused
with DNA profiling which only
determines that genetic material
came from only specific group.
1. Whole genome sequence has
largely been used as research tool.
WGS
2. The tool of gene sequencing at
SNP level is also used to pinpoint
functional variant.

6. Method of WGS
Nanopore
DNA
Sequencing
Polony
Sequencing
Single
molecule real
time
sequencing
Illumina
Sequencing
Pyrosequencing
Shotgun
sequencing

7. 1.Shotgun sequencing
Used for sequencing long DNA
stands.
DNA is broken up randomly into
the numerous small segments,
which are sequence by chain
termination method.
Multiple overlapping reads for the
target DNA are obtained by
performing the several rounds of
this fragmentation and sequencing.
Computer program then use
overlapping ends of different reads
to assemble them into a continuous
sequence.
A
B
C
D

8. Shotgun sequencing
Step 1
 Random fragment of
human genome.
 Starts with a set of bac
clones containing very
large dna inserts, averaging
about 150 kb.
 Insert in each bac is
sequenced on both ends.
 To fingerprint each clone by
digesting it with a
restriction enzyme.
 It tells the insert size.
 A seed BAC is selected for
sequencing.
 Seed bac is sub cloned into
a plasmid vector.
 Whole bac sequence allows
the identification of the 30
or so other bacs that
overlap with the seed.
 Three thousand of the
plasmid clones are
sequenced, and the
sequences are ordered
by their overlaps,
producing the sequence
of the whole 150-kb
BAC.
Printing
Plasmid
Finger
Library
BAC
Library
BAC
walking
Powerful
computer
Program
 Computer with a
powerful program
that found areas of
overlap between
clones and fit their
sequences together,
building the
sequence of the
whole genome.
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5
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10.  Improve diagnosis of
disease
 Detect genetic.
predispositions to disease.
 Create drugs based on
molecular information.
 Identify potential suspects
whose DNA may match
evidence left at crime
scenes.
 Identify crime victims.
 Establish paternity and other
family relationships.
 Identify endangered and protected
species as an aid to wildlife
officials.
 Rapidly detect and treat
pathogens (disease-causing
microbes) in clinical
practice.
 Develop new energy sources
(biofuels).
 Clean up toxic waste safely and
efficiently.
 Grow disease-, insect-, and
drought-resistant crops.
 Breed healthier, more
productive, disease-resistant
farm animals.
 Grow more nutritious produce.
 Incorporate edible vaccines
incorporated into food
products.
Application

11. Use of potentially biased
DNA polymerase during
bridge amplification.
Incomplete base
extension.
Shortest read length.
Long sequence run.
High instrument cost.
To find coding and non-
coding region.
Personalizes drugs.
Highest confirmed output.
Wide range of illumina
machines.
 Lowest error rates. Pros
Cons

12. Conclusion
To conclude, screening genome
sequencing data can provide
researchers with a comparatively
quick and cost-effective method of
isolating and characterizing highly
polymorphic genetic markers.

13. Thank You