HISTORY OF HUMAN GENOME PROJECT
The project had its ideological origins in the mid-1980s,
but its intellectual roots stretch back further
In the mid-1970s, Frederick
Sanger developed techniques to
sequence DNA
he received his second Nobel
Prize in chemistry in 1980.
 The Human Genome Project, The First
Five Years, FY 1991-1995."
The HGP began as a joint effort
between the Department of Energy
(DOE) and the United States
National Institutes of Health (NIH).
This initial research plan set out specific goals for the
first five years of what was then projected to be a 15-year
research effort.
 The Human Genome Project (HGP) is an international
research effort to determine the DNA sequence of the
entire human genome
 The work of the Human Genome Project has allowed
researchers to begin to understand the blueprint for
building a person. As researchers learn more about the
functions of genes and proteins, this knowledge will
have a major impact in the fields of medicine,
biotechnology, and the life science
Two groups tied in first sequencing a
human genome
The Human Genome Project
Celera genome sequencing project
The Human Genome Project
Funded by the US
Department of Energy, and
Celera Genomics, a private
company. The Human
Genome Project took 10
years and cost $3 billion USD
(US Dollars),
Celera genome
sequencing project took
two years and cost just $300
million USD. Both projects
concluded in 2000 or 2001,
depending on what is
considered a "complete"
human genome sequencing.
DNA sequencing is the process of determining the precise
order of nucleotides within a DNA molecule.
The advent of rapid DNA
sequencing methods has
greatly accelerated
biological and medical
research and discovery.
It includes any method or technology
that is used to determine the order of
the four bases in a strand of DNA
which are
Adenine
Guanine
Cytosine,
Thymin
DNA SEQUENCING
DNA Sequencing
Methods
Maxam-Gilbert sequencing is performed by chain
breakage at specific nucleotides.
DMS
G
G
G
G
FA
G
A
G
G
A
G
A
A
H
C
T
T
C
T
C
C
T
H+S
C
C
C
C
MAXAM-GILBERT
SEQUENCING
Sequencing gels are read from bottom to top (5′ to 3′).
G G+A T+C C
3′
A
A
G
C
A
A
C
G
T
G
C
A
G
5′
Longer fragments
Shortest fragments
G
A
CHAIN TERMINATION (SANGER)
SEQUENCING
In this method, the DNA is used as a template to generate a
set of fragments that differ in length from each other by a
single base.
The fragments are then separated by size, and the bases at
the end are identified, recreating the original sequence of the
DNA.
Chain terminates
at ddG
CHAIN TERMINATION (SANGER)
SEQUENCING
The 3′-OH group necessary for formation
of the phosphodiester bond is missing in
ddNTPs.
Template area to be sequenced
-3′ OH
TCGACGGGC…
5′OP-
Primer
Template
 A sequencing reaction mix includes labeled
primer and template.
 Dideoxynucleotides are added separately to each
of the four tubes.
ddATP + ddA
four dNTPs dAdGdCdTdGdCdCdCdG
ddCTP + dAdGddC
four dNTPs dAdGdCdTdGddC
dAdGdCdTdGdCddC
dAdGdCdTdGdCdCddC
ddGTP + dAddG
four dNTPs dAdGdCdTddG
dAdGdCdTdGdCdCdCddG
ddTTP + dAdGdCddT
four dNTPs dAdGdCdTdGdCdCdCdG
A
C
G
T
 The collection of fragments is a
sequencing ladder.
 The resulting terminated chains are
resolved by electrophoresis.
 Fragments from each of the four tubes
are placed in four separate gel lanes.
Sequencing gels are read from bottom to top (5′ to 3′).
G A T C
3′
G
G
T
A
A
A
T
C
A
T
G
5′
Longer fragments
Shorter fragments
ddG
ddG
GOALS OF DNA SEQUENCING
Large insert clones
YACs (Yeast Artificial Chromosomes
Useful for mapping ~1mb inserts
Unstable during construction and propagation
Not useful for sequencing
BACs (Bacterial Artificial Chromosomes)
~150kb insert
Extremely stable and easy to propagate
Gold standard for sequencing targets and
chromosome-scale maps
Cosmids
~50kb insert
Extremely stable and easy to propagate
Useful for sequencing but too small for
chromosome
Messenger RNAs (mRNA)
describes cytoplasmic
product
Pre-mRNA (part of hnRNA) in
nucleus is processed and
exported
Describe by gene/protein,
including isoform
spliced
or NCBI sequence (NM,
natural; XM, in silico)
New methods for describing
mRNAs (Sammeth 2008)
The genes in DNA encode protein molecules, which are the
"workhorses" of the cell, carrying out all the functions
necessary for life. For example, enzymes, including those that
metabolize nutrients and synthesize new cellular constituents,
as well as DNA polymerases and other enzymes that make
copies of DNA during cell division, are all proteins.
In the simplest sense,
expressing a gene means manufacturing its corresponding protein,
and this multilayered
process has two major steps.
In the first step, the information in DNA is transferred to a
messenger RNA (mRNA) molecule by
way of a process called transcription. During transcription,

the DNA of a gene serves as a template for complementarybase-pairing,
and an
enzyme called RNA polymerase II catalyzes the formation of a pre-mRNA
molecule, which is then processed to form mature mRNA.
. The resulting mRNA is a single-stranded copy of the gene, which next
must be translated into a protein molecule.
During translation, which is the second major step in gene
expression,
the mRNA is "read" according to the genetic code, which
relates
the DNA sequence to the amino acidsequence in proteins.
Each group of three base pairs in mRNA constitutes
acodon, and each
codon specifies a particular amino acid (hence,
it is a triplet code). The mRNA sequence is thus used as a
template
to assemble—in order—the chain of amino acids that form
a protein.
Human genome maps
genetic map of the human genome and determine the
entire nucleotide
sequence of humandeoxyribonucleic acid (DNA). A
nucleotide is the
basic unit of nucleic acid, which is
found in the 23 pairs ofchromosomes in the human body.
According to
the Human Genome Project, there are between 26,000 and
40,000 genes
in the human body. Each of these genes is composed of a
unique
sequence of pairs, each with four bases, called base pairs.
A Whole Genome Map is a high-resolution, ordered, whole genome
map generated from single DNA molecules
extracted from bacteria, yeast, or other fungi. Whole Genome Mapping is
a novel technology with unique capabilities in the field
of microbiology, with specific applications in the areas of Comparative
Genomics, Strain Typing, and Whole Genome Sequence Assembly.
Whole Genome Maps are generated de novo, independent of sequence
information, require no amplification or PCR steps, and provide
a comprehensive view of whole genome architecture. A Whole Genome Map
is displayed in the MapCode pattern where the vertical
lines indicate the locations of restriction sites, and the distance
between the lines represent the restriction fragment size.
to investigate microbial structure, function, diversity and
genetics— without the need for amplification, PCR, cloning,
paired-end libraries, pure isolates
, or genomic specific reagents. Using OpGen’s unique de
novo Whole
Genome Mapping Technology, the Argus Whole Genome
Mapping System,
BGI delivers high resolution, ordered whole genome
restriction maps
from single microbial DNA molecules.
• there are two mathods of maping
•Genetic linkage map
•Physical map
Low resolution map
Use moliculer biological te chniques to examin the dna directly
And position of sequence ,features and including the genes
Separate by the electrophrosis
In the gene linkage Map gentic techniques includes
Like crossing breed,or some natural prosses or in the csase of humans
the experimental of family history or such traits that’s coming from past
Gene map is the anatomy of human genom its easy to understand the
function of human genom
Help in analysing the heterogenecity and segregationof human genetic
And also dividing the chromosoms in the smaller fregments
Show the location of gene
GENE LINKAGE MAP PHYSICAL MAP
identify potential suspects at crime scenes
exonerate wrongly accused persons
identify crime and catastrophe victims
establish paternity and other family relations
identify endangered and protected species as an aid to wildlife officials
(prosecution of poachers)
assess health damage and risks caused by radiation exposure, including
low-dose exposures
assess health damage and risks caused by exposure to mutagenic chemicals
and cancer-causing toxins
reduce the likelihood of heritable mutations
fairness in the use of genetic information
privacy and confidentiality
psychological impact and stigmatization
genetic testing
reproductive issues
education, standards, and quality control
Commercialization
conceptual and philosophical implications
HGP, the human genome project

HGP, the human genome project

  • 3.
    HISTORY OF HUMANGENOME PROJECT The project had its ideological origins in the mid-1980s, but its intellectual roots stretch back further In the mid-1970s, Frederick Sanger developed techniques to sequence DNA he received his second Nobel Prize in chemistry in 1980.
  • 4.
     The HumanGenome Project, The First Five Years, FY 1991-1995." The HGP began as a joint effort between the Department of Energy (DOE) and the United States National Institutes of Health (NIH). This initial research plan set out specific goals for the first five years of what was then projected to be a 15-year research effort.
  • 5.
     The HumanGenome Project (HGP) is an international research effort to determine the DNA sequence of the entire human genome  The work of the Human Genome Project has allowed researchers to begin to understand the blueprint for building a person. As researchers learn more about the functions of genes and proteins, this knowledge will have a major impact in the fields of medicine, biotechnology, and the life science
  • 7.
    Two groups tiedin first sequencing a human genome The Human Genome Project Celera genome sequencing project The Human Genome Project Funded by the US Department of Energy, and Celera Genomics, a private company. The Human Genome Project took 10 years and cost $3 billion USD (US Dollars), Celera genome sequencing project took two years and cost just $300 million USD. Both projects concluded in 2000 or 2001, depending on what is considered a "complete" human genome sequencing.
  • 9.
    DNA sequencing isthe process of determining the precise order of nucleotides within a DNA molecule. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery. It includes any method or technology that is used to determine the order of the four bases in a strand of DNA which are Adenine Guanine Cytosine, Thymin DNA SEQUENCING
  • 10.
  • 11.
    Maxam-Gilbert sequencing isperformed by chain breakage at specific nucleotides. DMS G G G G FA G A G G A G A A H C T T C T C C T H+S C C C C MAXAM-GILBERT SEQUENCING
  • 12.
    Sequencing gels areread from bottom to top (5′ to 3′). G G+A T+C C 3′ A A G C A A C G T G C A G 5′ Longer fragments Shortest fragments G A
  • 13.
    CHAIN TERMINATION (SANGER) SEQUENCING Inthis method, the DNA is used as a template to generate a set of fragments that differ in length from each other by a single base. The fragments are then separated by size, and the bases at the end are identified, recreating the original sequence of the DNA.
  • 14.
    Chain terminates at ddG CHAINTERMINATION (SANGER) SEQUENCING The 3′-OH group necessary for formation of the phosphodiester bond is missing in ddNTPs.
  • 15.
    Template area tobe sequenced -3′ OH TCGACGGGC… 5′OP- Primer Template  A sequencing reaction mix includes labeled primer and template.  Dideoxynucleotides are added separately to each of the four tubes.
  • 16.
    ddATP + ddA fourdNTPs dAdGdCdTdGdCdCdCdG ddCTP + dAdGddC four dNTPs dAdGdCdTdGddC dAdGdCdTdGdCddC dAdGdCdTdGdCdCddC ddGTP + dAddG four dNTPs dAdGdCdTddG dAdGdCdTdGdCdCdCddG ddTTP + dAdGdCddT four dNTPs dAdGdCdTdGdCdCdCdG A C G T
  • 17.
     The collectionof fragments is a sequencing ladder.  The resulting terminated chains are resolved by electrophoresis.  Fragments from each of the four tubes are placed in four separate gel lanes.
  • 18.
    Sequencing gels areread from bottom to top (5′ to 3′). G A T C 3′ G G T A A A T C A T G 5′ Longer fragments Shorter fragments ddG ddG
  • 19.
    GOALS OF DNASEQUENCING Large insert clones YACs (Yeast Artificial Chromosomes Useful for mapping ~1mb inserts Unstable during construction and propagation Not useful for sequencing BACs (Bacterial Artificial Chromosomes) ~150kb insert Extremely stable and easy to propagate Gold standard for sequencing targets and chromosome-scale maps Cosmids ~50kb insert Extremely stable and easy to propagate Useful for sequencing but too small for chromosome
  • 21.
    Messenger RNAs (mRNA) describescytoplasmic product Pre-mRNA (part of hnRNA) in nucleus is processed and exported Describe by gene/protein, including isoform spliced or NCBI sequence (NM, natural; XM, in silico) New methods for describing mRNAs (Sammeth 2008)
  • 22.
    The genes inDNA encode protein molecules, which are the "workhorses" of the cell, carrying out all the functions necessary for life. For example, enzymes, including those that metabolize nutrients and synthesize new cellular constituents, as well as DNA polymerases and other enzymes that make copies of DNA during cell division, are all proteins. In the simplest sense, expressing a gene means manufacturing its corresponding protein, and this multilayered process has two major steps.
  • 23.
    In the firststep, the information in DNA is transferred to a messenger RNA (mRNA) molecule by way of a process called transcription. During transcription, the DNA of a gene serves as a template for complementarybase-pairing, and an enzyme called RNA polymerase II catalyzes the formation of a pre-mRNA molecule, which is then processed to form mature mRNA. . The resulting mRNA is a single-stranded copy of the gene, which next must be translated into a protein molecule.
  • 24.
    During translation, whichis the second major step in gene expression, the mRNA is "read" according to the genetic code, which relates the DNA sequence to the amino acidsequence in proteins. Each group of three base pairs in mRNA constitutes acodon, and each codon specifies a particular amino acid (hence, it is a triplet code). The mRNA sequence is thus used as a template to assemble—in order—the chain of amino acids that form a protein.
  • 25.
    Human genome maps geneticmap of the human genome and determine the entire nucleotide sequence of humandeoxyribonucleic acid (DNA). A nucleotide is the basic unit of nucleic acid, which is found in the 23 pairs ofchromosomes in the human body. According to the Human Genome Project, there are between 26,000 and 40,000 genes in the human body. Each of these genes is composed of a unique sequence of pairs, each with four bases, called base pairs.
  • 26.
    A Whole GenomeMap is a high-resolution, ordered, whole genome map generated from single DNA molecules extracted from bacteria, yeast, or other fungi. Whole Genome Mapping is a novel technology with unique capabilities in the field of microbiology, with specific applications in the areas of Comparative Genomics, Strain Typing, and Whole Genome Sequence Assembly. Whole Genome Maps are generated de novo, independent of sequence information, require no amplification or PCR steps, and provide a comprehensive view of whole genome architecture. A Whole Genome Map is displayed in the MapCode pattern where the vertical lines indicate the locations of restriction sites, and the distance between the lines represent the restriction fragment size.
  • 27.
    to investigate microbialstructure, function, diversity and genetics— without the need for amplification, PCR, cloning, paired-end libraries, pure isolates , or genomic specific reagents. Using OpGen’s unique de novo Whole Genome Mapping Technology, the Argus Whole Genome Mapping System, BGI delivers high resolution, ordered whole genome restriction maps from single microbial DNA molecules.
  • 28.
    • there aretwo mathods of maping •Genetic linkage map •Physical map Low resolution map Use moliculer biological te chniques to examin the dna directly And position of sequence ,features and including the genes Separate by the electrophrosis
  • 29.
    In the genelinkage Map gentic techniques includes Like crossing breed,or some natural prosses or in the csase of humans the experimental of family history or such traits that’s coming from past Gene map is the anatomy of human genom its easy to understand the function of human genom Help in analysing the heterogenecity and segregationof human genetic And also dividing the chromosoms in the smaller fregments Show the location of gene
  • 30.
    GENE LINKAGE MAPPHYSICAL MAP
  • 32.
    identify potential suspectsat crime scenes exonerate wrongly accused persons identify crime and catastrophe victims establish paternity and other family relations identify endangered and protected species as an aid to wildlife officials (prosecution of poachers)
  • 33.
    assess health damageand risks caused by radiation exposure, including low-dose exposures assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins reduce the likelihood of heritable mutations
  • 34.
    fairness in theuse of genetic information privacy and confidentiality psychological impact and stigmatization genetic testing reproductive issues education, standards, and quality control Commercialization conceptual and philosophical implications