BibTex format
@article{Sudmant:2010:10.1126/science.1197005,
author = {Sudmant, PH and Kitzman, JO and Antonacci, F and Alkan, C and Malig, M and Tsalenko, A and Sampas, N and Bruhn, L and Shendure, J and Eichler, EE and Altshuler, DL and Durbin, RM and Abecasis, GR and Bentley, DR and Chakravarti, A and Clark, AG and Collins, FS and De, La Vega FM and Donnelly, P and Egholm, M and Flicek, P and Gabriel, SB and Gibbs, RA and Knoppers, BM and Lander, ES and Lehrach, H and Mardis, ER and McVean, GA and Nickerson, DA and Peltonen, L and Schafer, AJ and Sherry, ST and Wang, J and Wilson, RK and Deiros, D and Metzker, M and Muzny, D and Reid, J and Wheeler, D and Li, J and Jian, M and Li, G and Li, R and Liang, H and Tian, G and Wang, B and Wang, W and Yang, H and Zhang, X and Zheng, H and Ambrogio, L and Bloom, T and Cibulskis, K and Fennell, TJ and Jaffe, DB and Shefler, E and Sougnez, CL and Gormley, N and Humphray, S and Kingsbury, Z and Koko-Gonzales, P and Stone, J and McKernan, KJ and Costa, GL and Ichikawa, JK and Lee, CC and Sudbrak, R and Borodina, T},
doi = {10.1126/science.1197005},
journal = {Science},
pages = {641--646},
title = {Diversity of human copy number variation and multicopy genes},
url = {http://dx.doi.org/10.1126/science.1197005},
volume = {330},
year = {2010}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million "singly unique nucleotide" positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes ∼1000 genes accessible to genetic studies of disease association.
AU - Sudmant,PH
AU - Kitzman,JO
AU - Antonacci,F
AU - Alkan,C
AU - Malig,M
AU - Tsalenko,A
AU - Sampas,N
AU - Bruhn,L
AU - Shendure,J
AU - Eichler,EE
AU - Altshuler,DL
AU - Durbin,RM
AU - Abecasis,GR
AU - Bentley,DR
AU - Chakravarti,A
AU - Clark,AG
AU - Collins,FS
AU - De,La Vega FM
AU - Donnelly,P
AU - Egholm,M
AU - Flicek,P
AU - Gabriel,SB
AU - Gibbs,RA
AU - Knoppers,BM
AU - Lander,ES
AU - Lehrach,H
AU - Mardis,ER
AU - McVean,GA
AU - Nickerson,DA
AU - Peltonen,L
AU - Schafer,AJ
AU - Sherry,ST
AU - Wang,J
AU - Wilson,RK
AU - Deiros,D
AU - Metzker,M
AU - Muzny,D
AU - Reid,J
AU - Wheeler,D
AU - Li,J
AU - Jian,M
AU - Li,G
AU - Li,R
AU - Liang,H
AU - Tian,G
AU - Wang,B
AU - Wang,W
AU - Yang,H
AU - Zhang,X
AU - Zheng,H
AU - Ambrogio,L
AU - Bloom,T
AU - Cibulskis,K
AU - Fennell,TJ
AU - Jaffe,DB
AU - Shefler,E
AU - Sougnez,CL
AU - Gormley,N
AU - Humphray,S
AU - Kingsbury,Z
AU - Koko-Gonzales,P
AU - Stone,J
AU - McKernan,KJ
AU - Costa,GL
AU - Ichikawa,JK
AU - Lee,CC
AU - Sudbrak,R
AU - Borodina,TA
AU - Dahl,A
AU - Davydov,AN
AU - Marquardt,P
AU - Mertes,F
AU - Nietfeld,W
AU - Rosenstiel,P
AU - Schreiber,S
AU - Soldatov,AV
AU - Timmermann,B
AU - Tolzmann,M
AU - Affourtit,J
AU - Ashworth,D
AU - Attiya,S
AU - Bachorski,M
AU - Buglione,E
AU - Burke,A
AU - Caprio,A
AU - Celone,C
AU - Clark,S
AU - Conners,D
AU - Desany,B
AU - Gu,L
AU - Guccione,L
AU - Kao,K
AU - Kebbel,A
AU - Knowlton,J
AU - Labrecque,M
AU - McDade,L
AU - Mealmaker,C
AU - Minderman,M
AU - Nawrocki,A
AU - Niazi,F
DO - 10.1126/science.1197005
EP - 646
PY - 2010///
SN - 0036-8075
SP - 641
TI - Diversity of human copy number variation and multicopy genes
T2 - Science
UR - http://dx.doi.org/10.1126/science.1197005
VL - 330
ER -