Lecture 5 - RH

Question 1

Why has the human genome been sequenced?

Answer 1

Molecular medicine: Diagnosis, prevention and treatment
Reproductive biology: How do we develop?
Hereditary disease: Here are 3,000-4,000 hereditary disease Cure???
Understanding of genetic alterations (e.g. SNPs)

Question 2

1984-1986

Answer 2

Idea to first sequence the entire human genome was proposed at a scientific meeting sponsored by U.S. Dept of Energy

Question 3

1988

Answer 3

US congress approves funding to Dept of Energy and NIH, James Watson named director of NIH NHGR

Question 4

1990

Answer 4

Project officially begins (International consortium US, France, England, China and Germany)

Question 5

1990 - 1995

Answer 5

Human Genome project focuses on building maps

Question 6

1992

Answer 6

Francis Collins replaces James Watson as Director

Question 7

1996

Answer 7

Bermuda principles established for IHGSC

Question 8

1998

Answer 8

J. Craig Venter forms Celera (aim to sequence entire genome in 3 years)

Question 9

1999

Answer 9

Public consortium on track to have draft of human sequence by 2000

Question 10

Dec ’99

Answer 10

Chromosome 22 completed and published

Question 11

May ’00

Answer 11

Chromosome 21 completed and published

Question 12

Jun ’00

Answer 12

Both groups announce completion of Draft

Question 13

15/2/01

Answer 13

IHGSC publish in Nature

Question 14

16/2/01

Answer 14

Celera publish in Science

Question 15

What is the difference between the 2 consortia; IHGSC and Celera?

Answer 15

IHGSC public funded
Used hierarchical approach
Easier because different groups were sequencing different chromosomes

Celera
Whole genome shotgun
Finished faster

Question 16

Why was chromosome 22 sequenced first?

Answer 16

Shortest chromosome

Question 17

How does hierarchal sequencing work?

Answer 17

Bacterial Artificial Chromosomes (BACs) are generated

Question 18

How does shotgun sequencing work?

Answer 18

Whole-genome shotgun reads are produced