Initial sequencing and analysis of the human genome.
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
Lander
E S
ES
Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, MA 02142, USA. lander@genome.wi.mit.edu
Linton
L M
LM
Birren
B
B
Nusbaum
C
C
Zody
M C
MC
Baldwin
J
J
Devon
K
K
Dewar
K
K
Doyle
M
M
FitzHugh
W
W
Funke
R
R
Gage
D
D
Harris
K
K
Heaford
A
A
Howland
J
J
Kann
L
L
Lehoczky
J
J
LeVine
R
R
McEwan
P
P
McKernan
K
K
Meldrim
J
J
Mesirov
J P
JP
Miranda
C
C
Morris
W
W
Naylor
J
J
Raymond
C
C
Rosetti
M
M
Santos
R
R
Sheridan
A
A
Sougnez
C
C
Stange-Thomann
Y
Y
Stojanovic
N
N
Subramanian
A
A
Wyman
D
D
Rogers
J
J
Sulston
J
J
Ainscough
R
R
Beck
S
S
Bentley
D
D
Burton
J
J
Clee
C
C
Carter
N
N
Coulson
A
A
Deadman
R
R
Deloukas
P
P
Dunham
A
A
Dunham
I
I
Durbin
R
R
French
L
L
Grafham
D
D
Gregory
S
S
Hubbard
T
T
Humphray
S
S
Hunt
A
A
Jones
M
M
Lloyd
C
C
McMurray
A
A
Matthews
L
L
Mercer
S
S
Milne
S
S
Mullikin
J C
JC
Mungall
A
A
Plumb
R
R
Ross
M
M
Shownkeen
R
R
Sims
S
S
Waterston
R H
RH
Wilson
R K
RK
Hillier
L W
LW
McPherson
J D
JD
Marra
M A
MA
Mardis
E R
ER
Fulton
L A
LA
Chinwalla
A T
AT
Pepin
K H
KH
Gish
W R
WR
Chissoe
S L
SL
Wendl
M C
MC
Delehaunty
K D
KD
Miner
T L
TL
Delehaunty
A
A
Kramer
J B
JB
Cook
L L
LL
Fulton
R S
RS
Johnson
D L
DL
Minx
P J
PJ
Clifton
S W
SW
Hawkins
T
T
Branscomb
E
E
Predki
P
P
Richardson
P
P
Wenning
S
S
Slezak
T
T
Doggett
N
N
Cheng
J F
JF
Olsen
A
A
Lucas
S
S
Elkin
C
C
Uberbacher
E
E
Frazier
M
M
Gibbs
R A
RA
Muzny
D M
DM
Scherer
S E
SE
Bouck
J B
JB
Sodergren
E J
EJ
Worley
K C
KC
Rives
C M
CM
Gorrell
J H
JH
Metzker
M L
ML
Naylor
S L
SL
Kucherlapati
R S
RS
Nelson
D L
DL
Weinstock
G M
GM
Sakaki
Y
Y
Fujiyama
A
A
Hattori
M
M
Yada
T
T
Toyoda
A
A
Itoh
T
T
Kawagoe
C
C
Watanabe
H
H
Totoki
Y
Y
Taylor
T
T
Weissenbach
J
J
Heilig
R
R
Saurin
W
W
Artiguenave
F
F
Brottier
P
P
Bruls
T
T
Pelletier
E
E
Robert
C
C
Wincker
P
P
Smith
D R
DR
Doucette-Stamm
L
L
Rubenfield
M
M
Weinstock
K
K
Lee
H M
HM
Dubois
J
J
Rosenthal
A
A
Platzer
M
M
Nyakatura
G
G
Taudien
S
S
Rump
A
A
Yang
H
H
Yu
J
J
Wang
J
J
Huang
G
G
Gu
J
J
Hood
L
L
Rowen
L
L
Madan
A
A
Qin
S
S
Davis
R W
RW
Federspiel
N A
NA
Abola
A P
AP
Proctor
M J
MJ
Myers
R M
RM
Schmutz
J
J
Dickson
M
M
Grimwood
J
J
Cox
D R
DR
Olson
M V
MV
Kaul
R
R
Raymond
C
C
Shimizu
N
N
Kawasaki
K
K
Minoshima
S
S
Evans
G A
GA
Athanasiou
M
M
Schultz
R
R
Roe
B A
BA
Chen
F
F
Pan
H
H
Ramser
J
J
Lehrach
H
H
Reinhardt
R
R
McCombie
W R
WR
de la Bastide
M
M
Dedhia
N
N
Blöcker
H
H
Hornischer
K
K
Nordsiek
G
G
Agarwala
R
R
Aravind
L
L
Bailey
J A
JA
Bateman
A
A
Batzoglou
S
S
Birney
E
E
Bork
P
P
Brown
D G
DG
Burge
C B
CB
Cerutti
L
L
Chen
H C
HC
Church
D
D
Clamp
M
M
Copley
R R
RR
Doerks
T
T
Eddy
S R
SR
Eichler
E E
EE
Furey
T S
TS
Galagan
J
J
Gilbert
J G
JG
Harmon
C
C
Hayashizaki
Y
Y
Haussler
D
D
Hermjakob
H
H
Hokamp
K
K
Jang
W
W
Johnson
L S
LS
Jones
T A
TA
Kasif
S
S
Kaspryzk
A
A
Kennedy
S
S
Kent
W J
WJ
Kitts
P
P
Koonin
E V
EV
Korf
I
I
Kulp
D
D
Lancet
D
D
Lowe
T M
TM
McLysaght
A
A
Mikkelsen
T
T
Moran
J V
JV
Mulder
N
N
Pollara
V J
VJ
Ponting
C P
CP
Schuler
G
G
Schultz
J
J
Slater
G
G
Smit
A F
AF
Stupka
E
E
Szustakowki
J
J
Thierry-Mieg
D
D
Thierry-Mieg
J
J
Wagner
L
L
Wallis
J
J
Wheeler
R
R
Williams
A
A
Wolf
Y I
YI
Wolfe
K H
KH
Yang
S P
SP
Yeh
R F
RF
Collins
F
F
Guyer
M S
MS
Peterson
J
J
Felsenfeld
A
A
Wetterstrand
K A
KA
Patrinos
A
A
Morgan
M J
MJ
de Jong
P
P
Catanese
J J
JJ
Osoegawa
K
K
Shizuya
H
H
Choi
S
S
Chen
Y J
YJ
Szustakowki
J
J
D000818:Animals; D002874:Chromosome Mapping; D017124:Conserved Sequence; D018899:CpG Islands; D004251:DNA Transposable Elements; D016208:Databases, Factual; D004345:Drug Industry; D019143:Evolution, Molecular; D005544:Forecasting; D020862:GC Rich Sequence; D020440:Gene Duplication; D005796:Genes; D030342:Genetic Diseases, Inborn; D005826:Genetics, Medical; D015894:Genome, Human; D016045:Human Genome Project; D006801:Humans; D009154:Mutation; D017149:Private Sector; D011506:Proteins / Q000235:genetics; D020543:Proteome; D017150:Public Sector; D012313:RNA / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid; D017422:Sequence Analysis, DNA / Q000379:methods; D013045:Species Specificity
D004251:DNA Transposable Elements; D011506:Proteins; D020543:Proteome; D012313:RNA