生物组学：不再钓鱼，而是捞鱼 -...

History of Life Science

Human Genome ProjectHGP


1942-46

(1961-69)

(1990-2003)

20

HGP


1961

(Human Genome ProjectHGP)

HGP

10

1.

2.


1984.12

DNA

1986.3 DulbeccoScience :

(DOE)

1987 NIH

550

1989 Watson

1990.10

James Watson Walter Gilbert


HGP

Robert Sinsheimer convened the meeting which might be the first one that seriously

considered sequencing the human genome.

R. Sinsheimer

Charles DeLisi, then Director of Health and

Environmental Research at DOE, endorsed the

initiative and began to fund in 1987.

Santa CruzCalifornia,1985

(Robert Sinsheimer)

Charles DeLisi


Renato Dulbecco

Turning point

of cancer research

- Sequencing

the whole genome

(Science, March 7, 1986)

:


HGPDNA

James Watson ,1990,Science


15(19902005)30DNA

10

4

DNA

HGP

HGP

HGP


1995 (H. inf) 1996

Haemophilus influenza

Saccharomyces cerevisiae

Caenorhabditis elegans


1997 (E. coli) 1998 1999.5


2000 Celera 2000.6.26 Celera 2001.2.15 Nature 2001.2.16 ScienceCelera

Drosophila melanogaster

Arabidopsis thaliana


2001215Nature 2001216Science


2000626 10


President lauds new map of human life

[ Xinhua 06/29/2000 Beijing ] In a speech yesterday in BeijingPresident Jiang Zemin applauded the recent completion of the first working draft of the human genome map. Jiang called the

Human Genome Project a great scientific project in the scientific history of human beings and one of vital

importance to the development of life sciencesmedicine and pharmaceutical study. The completion of the working draft is a milestone in the overall process of the Human Genome Project, said Jiang, adding that it

results from teamwork by scientists all over the world. The human genome sequence is the common heritage

of mankind and should bring wealth and benefit to all human beings, Jiang said. Jiang congratulated the

scientists and technical staff involved and thanked the participating Chinese scientists for their hard work.

Jiang said he expects Chinese scientists to make further contributions to the completion of human genome

mapping and Chinas scientific genome research as well.

.


International

HapMap Consortium

29 Oct. 2002

International

HGP Consortium

10 May 2002


International

HapMap

Consortium

Oct. 26, 2005 Salt Lake City


2001826 2002 2003414 6

200410

NATURE |VOL 431 | 21 OCTOBER 2004 |www.nature.com/nature


1.

2.

3.

198921/3

199063

19907

19957

199991

HGP


5.

The Sun, the Genome, and the Internet

Tools of Scientific Revolution

Freeman Dyson

4.

1998Craig VenterCelera


HGP


genome DNARNA DNA DNA (base pairbp)103kb106Mb

(genome)?


DNA

X


DNA

C


106(G. Rubin) 56 7 8 14 43


2000,2003J. Watson

Bets 165

Mean 61,710

Lowest 25,947

Highest 153,478

Last Genes weep Votes Vote distribution

The gene champ, Lee Rowen, who directs a sequencing project at the Institute for

Systems Biology in Seattle, Washington - beat 460 other hopefuls to take home part of

the cash pot. Rowen's wager at 25,947 is closest to the current reckoning in a genetic

database called Ensembl, of 24,847. Like all good gamblers, her number was "a stab";

one runner-up picked 27,462 because the 27 April, 1962 was his birthday.


32

Single molecule

sequencing

1942-46

(1961-69)

(1990-2003)

NGS

(next generation sequncing)


Sanger

33

ABI 3730XL

Frederick Sanger Sanger(1977)

Sanger

1972. Herbert Boyer II (RE-II)

1975. F.Sanger ,

1977. Maxam Gilbert

1977. F. Sanger ddNTP


34

Roche 454

Jonathan M.Rothberg


35

Illumina solexa

1 2 3 7 8 9 4 5 6

T G C T A C G A T

David Bentley


36

ABI SOliD

54

3151~2 -16 3~5n6~8

z

45 ABI(Apply Biosystems)


37

Roche/454 FLX+ Illumina/Hiseq2000 ABI/SolidSiD

700-1000M 600G 300G

700-1000bp 2100bp 250bp

23h 10days 10days


()

38

ABI Ion Torrent Illumina Miseq Roche Junior

Ion Torrent Miseq Junior

200 2250 400

reads 0.5M 32M 100K

100M 8.0G 35M

2h 39h 10h


H+

39

Personal Genome

Machine

ABI/ Ion Torrent

History of Life Science 40

Ion Proton

(Life Technologies)

2


41


Complete Genomics

42

Clifford Reid Radoje Drmanac John Curson

2006


HeliScos Biosciences

43

Stephen Quake

IlluminaDNARNA21-35 GB35 bp

HeliScope


Pacific Biosciences

44

PacBio RS5000-7000bp

PacBio RS

Pacific Biosciences

Steven Turner Jonas Korlach


Oxford Nanopore

Clive Brown


46

(%)

(kb)

(Mb)

($/kb)

ABi Sanger 98.50 0.8 5.5 ~0.5

454/Roche >99.50 0.7 340.0 ~0.02

Illumina 99.90 0.1 50,000.0 ~0.0005

SOLiD 99.94 0.05 170,000.0 ~0.0005

Complete Genomics >99.00 0.035 200,000.0 ~0.0005

Ion torrent, proton N/A 0.2 5580.0 ~0.0005

Helicos 99.70 0.035 50,000.0 0.0005

Pacific Biosciences 99.30 3-10 108.0 N/A (85%)

Life Technologies N/A >1 25,000.0 N/A

Oxford Nanopore 99.80 >1 N/A


99.99%.

1/

!

$1000/


20072500

2009.6.21

Complete Genomics: 20105000

10,000(http://www.genomeweb.com/sequencing)

Wellcome Trust10,000 (http://www.genomeweb.com/sequencing)

1.

2000

http://www.genomeweb.com/sequencinghttp://www.genomeweb.com/sequencing


PLoS Biology

http://images.google.cn/imgres?imgurl=http://www.poptech.org/images/speakers/speaker232_large.jpg&imgrefurl=http://www.poptech.org/external/speakers.cfm%3Fpage%3Dspeaker_detail%26id%3D232&h=641&w=534&sz=256&hl=zh-CN&start=1&um=1&tbnid=_HUwTMgTAPAF2M:&tbnh=137&tbnw=114&prev=/images%3Fq%3DCraig%2B%2BVenter%26um%3D1%26complete%3D1%26hl%3Dzh-CN%26newwindow%3D1%26sa%3DG


http://www.genomeweb.c

om/blog/different-kind-

celebrity-genomics

http://scienceblogs.com/geneticfutu

re/2010/03/celebrity_genomics_with

out_the.php http://biotechniques.com/news/First-named-female-genome-sequenced/biotechniques-

204525.html?utm_source=BioTechniques+Newsletters+%26+e-

Alerts&utm_campaign=f2f1fda4c4-

BioTechniques_Daily&utm_medium=email

Actress Glenn Close


http://showbiz.sky.com/ozzy-osbournes-secret-to-living

Ozzy Osbourne

Ozzy Osbourne has lived a reckless life, to say the least. With years of boozing and drugs it's amazing his body has coped with it all. Which is exactly what scientists think. They are so intrigued by the Black Sabbath singer that they are going to map his genetic code to find out how he is still alive after decades of abusing his body. It's hoped the results from the 27,000 test will provide information on how drugs are absorbed in the body. Even Ozzy is a bit baffled as to how he has lived so long given that he's spent 40 years

on a "bender". At one point he admitted drinking four bottles of cognac a day: "blacking out, coming to again and carrying on". It was so bad that he even tried to strangle his wife Sharon. But despite this they are still married and the 61-year-old claims he no longer smokes or drinks. US company Knome, will use a blood sample to map Ozzy's genome. The director of research, Nathan Pearson, said: "Sequencing and analysing individuals with extreme medical histories provides the greatest potential scientific value." The results will hopefully help scientists understand why the bodies of hard-living rockers such as Ozzy are able to take more substance abuse than the average person.

40


Here we present the complete genome sequences of an indigenous hunter-

gatherer from the Kalahari Desert and a Bantu from southern Africa, as well

as protein-coding regions from an additional three hunter-gatherers from

disparate regions of the Kalahari. We characterize the extent of whole-

genome and exome diversity among the five men, reporting 1.3 million

novel DNA differences genome-wide, including 13,146 novel amino acid

variants. In terms of nucleotide substitutions, the Bushmen seem to be, on

average, more different from each other than, for example, a European and

an Asian. Observed genomic differences between the hunter-gatherers and

others may help to pinpoint genetic adaptations to an agricultural lifestyle.

Adding the described variants to current databases will facilitate inclusion

of southern Africans in medical research efforts, particularly when family

and medical histories can be correlated with genome-wide data.

Stephan C. Schuster et al.

Nature News

Africa yields two full human genomes

Sequences show rich diversity among the

population. Nature 463, 857 (2010)

Archbishop Desmond Tutus

genome was chosen to represent

the Bantu peoples of southern Africa.

Tutu


April 16, 2010

Mark Henderson, Science Editor

Family become first to have DNA sequenced

for non-medical reasons

John and Judy West flank Paul and Anne on Holiday

A family of four has become the

first in which every members

genome has been sequenced

for non-medical reasons,

opening a debate about the

ethics of analysing the DNA of

minors.

John and Judy West, both 53,

and their children, Anne, 17,

and Paul, 14, paid almost

$200,000 (130,000) to have

their entire genetic code read

by the sequencing company

Illumina.

http://www.timesonline.co.uk/tol/news/science/g

enetics/article7100159.ece

2010.4.16134


(ICGC) 5025 Huntingtons disease.

2.


972-974


Scientists diagnose genetic disorder by sequencing patients genome,

10/23/2009, Erin Podolak

Physicians in Turkey initially suspected that the infant had

Barters syndrome, which affects kidney function. However, after

Liftons team sequenced DNA from blood samples taken from the

patient, they were able to identify a genetic mutation affecting

electrolyte transport in the intestines that is known to cause

congentical chloride diarrhea.

Barter

History of Life Science Science, 2009, 326: 794 795.

3.


http://images.google.cn/imgres?imgurl=http://www.sc.gov.cn/lysc/xccx/gncx/200701/W020070112802464899605.jpg&imgrefurl=http://www.sc.gov.cn/lysc/xccx/gncx/200701/t20070112_166894.shtml&usg=__WRSjrWLHOKoU7v86FhAwyRW1ZeI=&h=542&w=585&sz=37&hl=zh-CN&start=28&tbnid=3T4FEsKnfqJlKM:&tbnh=125&tbnw=135&prev=/images%3Fq%3D%25E5%25A4%25A7%25E7%2586%258A%25E7%258C%25AB%26gbv%3D2%26ndsp%3D18%26hl%3Dzh-CN%26sa%3DN%26start%3D18%26newwindow%3D1


http://images.google.cn/imgres?imgurl=http://www.51sleep.com/h/uploadfile/200807/20080712101518869.jpg&imgrefurl=http://www.51sleep.com/h/2/86260-17.shtml&usg=__lTU2Y-eqpVippVkPyymklS9F-0M=&h=262&w=340&sz=17&hl=zh-CN&start=10&tbnid=o3oXAElTKAXULM:&tbnh=92&tbnw=119&prev=/images%3Fq%3D%25E8%259A%2595%26gbv%3D2%26hl%3Dzh-CN%26sa%3DG%26newwindow%3D1

History of Life Science Cell.2011, 147, 11711185

History of Life Science Nature.2012, 485:635-641


Danish tumbler pigeon

Science 2013339 61231063-1067 DOI: 10.1126/science.1230422

350 1Danish tumbler de novo 403828-20

Columba livia


http://www.ncbi.nlm.nih.gov/genome/2013429

classification all scaffolds or contigs complete

eukaryotes 3113 997 190

prokaryotes 1998 10820 2682

viruses 3654 3516 3515

amimals 992 317 67

birds 32 11 3

7307


3001, 5001500

1741995Hammond 150

1998Robert M.May

4 4

4 4

27 27

7 7

132 (108)

4.5


*

*

DNA


Genomics

RNomics

1990

1994

1998

2000

Metabolomics

Proteomics


DNA

mRNA

/


(Systems Biology)

mRNA


1-

1mRNA

;

2;

3;

4


1 2 3 n


2-


3-

Perturbation)


Lets explore the secrets within life

Lets enjoy the beauty of life sciences


2000

生物组学：不再钓鱼，而是捞鱼 -...

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