PMID- 15273396
OWN - NLM
STAT- MEDLINE
DCOM- 20040809
LR  - 20221004
IS  - 1095-9203 (Electronic)
IS  - 0036-8075 (Linking)
VI  - 305
IP  - 5683
DP  - 2004 Jul 23
TI  - Large-scale copy number polymorphism in the human genome.
PG  - 525-8
AB  - The extent to which large duplications and deletions contribute to human genetic 
      variation and diversity is unknown. Here, we show that large-scale copy number 
      polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially 
      to genomic variation between normal humans. Representational oligonucleotide 
      microarray analysis of 20 individuals revealed a total of 221 copy number 
      differences representing 76 unique CNPs. On average, individuals differed by 11 
      CNPs, and the average length of a CNP interval was 465 kilobases. We observed 
      copy number variation of 70 different genes within CNP intervals, including genes 
      involved in neurological function, regulation of cell growth, regulation of 
      metabolism, and several genes known to be associated with disease.
FAU - Sebat, Jonathan
AU  - Sebat J
AD  - Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.
FAU - Lakshmi, B
AU  - Lakshmi B
FAU - Troge, Jennifer
AU  - Troge J
FAU - Alexander, Joan
AU  - Alexander J
FAU - Young, Janet
AU  - Young J
FAU - Lundin, Par
AU  - Lundin P
FAU - Maner, Susanne
AU  - Maner S
FAU - Massa, Hillary
AU  - Massa H
FAU - Walker, Megan
AU  - Walker M
FAU - Chi, Maoyen
AU  - Chi M
FAU - Navin, Nicholas
AU  - Navin N
FAU - Lucito, Robert
AU  - Lucito R
FAU - Healy, John
AU  - Healy J
FAU - Hicks, James
AU  - Hicks J
FAU - Ye, Kenny
AU  - Ye K
FAU - Reiner, Andrew
AU  - Reiner A
FAU - Gilliam, T Conrad
AU  - Gilliam TC
FAU - Trask, Barbara
AU  - Trask B
FAU - Patterson, Nick
AU  - Patterson N
FAU - Zetterberg, Anders
AU  - Zetterberg A
FAU - Wigler, Michael
AU  - Wigler M
LA  - eng
GR  - 5T32 CA069311/CA/NCI NIH HHS/United States
GR  - CA078544/CA/NCI NIH HHS/United States
GR  - CA81674/CA/NCI NIH HHS/United States
GR  - DC004209/DC/NIDCD NIH HHS/United States
GR  - GM057070/GM/NIGMS NIH HHS/United States
GR  - HG02606/HG/NHGRI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Science
JT  - Science (New York, N.Y.)
JID - 0404511
RN  - 0 (Bacterial Proteins)
RN  - EC 3.1.21.- (Deoxyribonuclease HindIII)
RN  - EC 3.1.21.4 (BglII endonuclease)
RN  - EC 3.1.21.4 (Deoxyribonucleases, Type II Site-Specific)
SB  - IM
MH  - Alleles
MH  - Bacterial Proteins/metabolism
MH  - Cell Line, Transformed
MH  - Chromosome Aberrations
MH  - Chromosome Mapping
MH  - Chromosomes, Human/genetics
MH  - Deoxyribonuclease HindIII/metabolism
MH  - Deoxyribonucleases, Type II Site-Specific/metabolism
MH  - Female
MH  - Gene Deletion
MH  - *Gene Dosage
MH  - Gene Duplication
MH  - Gene Frequency
MH  - *Genetic Variation
MH  - *Genome, Human
MH  - Humans
MH  - Male
MH  - Markov Chains
MH  - Oligonucleotide Array Sequence Analysis
MH  - *Polymorphism, Genetic
EDAT- 2004/07/27 05:00
MHDA- 2004/08/10 05:00
CRDT- 2004/07/27 05:00
PHST- 2004/07/27 05:00 [pubmed]
PHST- 2004/08/10 05:00 [medline]
PHST- 2004/07/27 05:00 [entrez]
AID - 305/5683/525 [pii]
AID - 10.1126/science.1098918 [doi]
PST - ppublish
SO  - Science. 2004 Jul 23;305(5683):525-8. doi: 10.1126/science.1098918.