• Name: Zia-Ud-Din

• Roll/No: 5427
• Topic: Human Genome Project
• Subject: Essentials Of Biological Data Analysis
• Department: Bioinformatics and Biotechnology,
Government College, University, Faisalabad
 Human Genome Project
• GENOME – the whole hereditary information of an organism that is encoded in
the DNA.

• 1990-2003

• The Human Genome Project is a long-term project by international scientist to

develop detailed genetic and physical maps of the human genome.

• The human genome contains around three billion (3.3 Billion bps) DNA base
pairs, as well as all of the genetic information necessary to create us.
 Optimization of the data analysis

Sequencing the entire genome.

Goals of
the human Identification of the complete human genome.
genome
project
Creating genome sequence databases to store the
data.

Develop tools for data analysis.

 The process of the human genome project
The complete gene set was isolated from a cell.
It was then split into small fragments.
This DNA structure was then amplified with the help of a vector which mostly was
BAC (Bacterial artificial chromosomes) and YAC (Yeast artificial chromosomes).
The smaller fragments were then sequenced using DNA sequencers.
On the basis of overlapping regions, the sequences were then arranged.
All the information of this genome sequence was then stored in a computer-based
program.
This way the entire genome was sequenced and stored as genome database in
computers. Genome mapping was the next goal which was achieved with the help
of microsatellites (repetitive DNA sequences).
Features

•Features of the Human genome project include:

Our entire genome is made up of 3164.7 million base pairs.
On average, a gene is made up of 3000 nucleotides.
The function of more than 50 percent of the genes is yet to be discovered.
Proteins are coded by less than 2 percent of the genome.
Most of the genome is made up of repetitive sequences which have no coding
purposes specifically but such redundant codes can help us better understand of
genetic development of humanity through the ages.
OUTCOMES
•The completion of the Human Genome Project in 2003 lead to many outcomes:
Mapping 
• The number, location, size and sequence of human genes is now established
Screening 
• For the production of specific gene probes to detect sufferers and carriers of genetic diseases
Medicine 
•The discovery of new proteins have lead to improved treatments (pharmacogenetics and
rational drug design)
Ancestry 
• Comparisons with other genomes have provided insight into the origins, evolution and
migratory patterns of man
Applications of HGP

Identification of human genes and their functions.

Understanding of polygenic disorders e.g. cancer, hypertension, diabetes.
Improvements in gene therapy
Improved diagnosis of diseases
Development of pharmacogenesis.
Understanding of complex social trait.
Improved knowledge on mutations.
Better understanding of developmental biology.
Development of biotechnology
THANK YOU