Human genome project was a international scientific project carried out by Department of Energy (DOE) and National Institute of Health (NIH). Initiated at year 1990 and completed verry recently by completing the sequencing of Y chromosome on NOV 2023 . Which was estimated to be a 3 billion US dollar project one of the biggest scientific project in the history.
They aimed at sequencing the entire human genome which was estimated to have 3billion nucleotide base pairs containing around 25000 important genes responsible for different metabolism in the body. With the goal of improving Humans standard of living in terms of Health and medicine.
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HUMAN GENOME PROJECT.pptx
1. The Story of
The Human Genome Project (HGP)
Presented By:
Punith Kumar. S
Department of Biotechnology
Bangalore university
Guided By:
Dr.Lakshmi. G
Department of Biotechnology
Bangalore university
2. Contents:
Inception of Human Genome Project.
Objectives.
Major contributions from NIH & DOE.
Methods used for sequencing.
Challenges of sequencing.
Announcement of completion.
Conclusion
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4. 1986
1984
Drumbeat of Discussions Leading Up to HGP
1987
1988 1988 1989
“For the newly developing discipline
of [genome] mapping/sequencing
(including the analysis of the
information), we have adopted the
term GENOMICS…
Genomics
5. Molecular Biology Revolution Set the Stage
for the Human Genome Project (HGP)
1970s 1977 1983
DNA
Cloning
DNA
Sequencing
Polymerase Chain
Reaction (PCR)
7. 1. Expect to be a 15-year initiative
2. Gain experience with model (i.e., well-studied, experimental) organisms with
smaller genomes before giving full attention to human genome
3. In each case, map (i.e., organize) DNA first and then sequence (i.e., read) DNA
4. Wait to sequence human genome until a new ‘revolutionary’ DNA sequencing
method(s) becomes available – replacing Sanger DNA sequencing
5. Make generating the first sequence of the human genome the signature
accomplishment of the HGP
Initially Envisioned Plan for HGP
8. Broad Objectives :
To identify all the genes of human genome.
To sequence the ~3 billion nucleotides of human genome.
To identify all the disease causing genes and understand their function.
To develop database to store this information and make the information
available to al the researchers.
To develop tools for processing and analysing data.
To address ethical, legal , and social issues.
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13. Shotgun Sequencing
Shotgun sequencing is a laboratory technique for determining the DNA
sequence of an organism’s genome (or part of the genome). The method
involves randomly breaking up the DNA into small fragments that are
then sequenced individually. A computer program looks for overlaps in
the DNA sequences, using them to reassemble the fragments in their
correct order to determine the sequence of the starting DNA.
From NHGRI’s ‘Talking Glossary’
genome.gov/genetics-glossary
21. Challenges of Sequencing the Human Genome
Human Genome: ~3,000,000,000 nucleotides (bases or base pairs)
Sanger DNA sequencing Circa 1990: ~500-800 bases per read
‘Coverage’ (i.e., number of time each base is read) needed to be
high (e.g., >30-fold) to attain high accuracy
Roughly half of human genome consists repetitive DNA, much of
it reflecting remnants of transposable elements
23. Buffalo, NY blood donors
93% of HGP’s human genome sequence from 11 donors
70% of HGP’s human genome sequence from 1 donor
Humorous Aside: Advocacy by some HGP researchers to select a ‘normal’
person and sequence their genome first – as if anyone knows what ‘normal’
means!
24. Significant attention to release and sharing of
HGP genome sequence data
Two seminal meetings in Bermuda in 1996
and 1997
Landmark agreement for rapid data release
and public access to HGP genome
sequence data
Became known as ‘Bermuda Principles’
Among the most important legacy of HGP
Bermuda Principles for Data Sharing
25. Initial HGP Plan
‘Clone-by-Clone
Shotgun Sequencing’
VS
Editorial Aside: Not really a fair ‘race’ since Celera had access to HGP data (but not vice versa)!!!
Purported ‘Race’ to Sequence Human Genome
Venter/Celera Plan
‘Whole-Genome
Shotgun Sequencing’
27. February 2001: Papers Reporting
Draft Sequence of Human Genome
HGP Paper Venter/Celera Paper
28. Initial HGP Plan Venter/Celera Plan Ultimate HGP Plan
+ =
Generating the First Human Genome Sequence
29. National DNA Day established
HGP completion & 50th
anniversary of discovery of
DNA’s double-helical structure
April 25, 2003: HGP Completion
30. Highlight Features of HGP
Completed ahead of schedule (13 years) and underbudget
Signature accomplishment was generation of an extremely high-
quality sequence for >90% (‘near-complete’ or ‘essentially
complete’) of human genome
Cost of generating first human genome sequence by HGP: ~$1 billion
The ‘race’ between HGP and Venter/Celera melted away after
announcement of draft human genome sequence in 2000
Similarly, the initial concerns about the HGP from some parts of the
scientific community largely melted away
HGP set the field of genomics into a trajectory of widespread
dissemination across biology, medicine, and society
31. HGP produced a high-quality human genome sequence, but it
only accounted for 92% of the human genome
Remaining 8% was not ‘readable’ using the then-available
methods for DNA sequencing, but those regions are important
for structural (centromere and telomeres) and medical reasons
Several new ‘revolutionary’ methods for DNA sequencing have
been developed over the last ~20 years
These new methods plus better computational approaches set
the stage for a new group of researchers to (finally) generate
a truly complete sequence of the human genome in 2022
A Truly Complete Human
Genome Sequence
35. CONCLUSION
HGP: 1990-2003
HGP used a map-first, sequence-second strategy to study the human genome
HGP used Sanger DNA sequencing – not a revolutionary new DNA sequencing method
Sequencing the human genome was particularly difficult because of its large size, complexity,
and extensive amounts of repetitive regions
Genome sequence assembly was (and remains) a major challenge; repetitive regions present
a particular obstacle to accurately assembling genome sequences
Venter/Celera pursued a whole-genome sequencing strategy and tried to build a business
selling access to their data; both efforts fell short of expectations
Ultimately, the HGP completed the task of generating the first high-quality ‘essentially
complete’ sequence of the human genome; 19 years later (in 2022), a truly complete
(‘telomere-to-telomere’) human genome sequence was finally generated
36. In reality, HGP was the end of one journey, but
the beginning of another.
For example, HGP determined the sequence of
most of the ~3 billion bases in the human genome,
with the next phase focused on INTERPRETING the
information encoded in that sequence – something
that continues to the present time.
Beyond the HGP
37. Reference:
James D. Watson , Amy A. Caudy , Richard M. Mayers, Jan
A.Witkowski. Third edition Recombinant DNA Genes and
Genomes-A Short course . 2006. Page no: 273-304.
National Human Genome Research
Institute https://www.genome.gov
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