Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.
Wang
D G
DG
Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA.
Fan
J B
JB
Siao
C J
CJ
Berno
A
A
Young
P
P
Sapolsky
R
R
Ghandour
G
G
Perkins
N
N
Winchester
E
E
Spencer
J
J
Kruglyak
L
L
Stein
L
L
Hsie
L
L
Topaloglou
T
T
Hubbell
E
E
Robinson
E
E
Mittmann
M
M
Morris
M S
MS
Shen
N
N
Kilburn
D
D
Rioux
J
J
Nusbaum
C
C
Rozen
S
S
Hudson
T J
TJ
Lipshutz
R
R
Chee
M
M
Lander
E S
ES
D000465:Algorithms; D000483:Alleles; D002874:Chromosome Mapping / Q000379:methods*; D018076:DNA, Complementary; D016208:Databases, Factual; D003854:Deoxyribonucleotides / Q000235:genetics*; D015226:Dinucleoside Phosphates; D015870:Gene Expression; D005819:Genetic Markers; D005821:Genetic Techniques; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA; D016324:Sequence Tagged Sites
D018076:DNA, Complementary; D003854:Deoxyribonucleotides; D015226:Dinucleoside Phosphates; D005819:Genetic Markers; C015772:CpG dinucleotide