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Global variation in copy number in the human genome
50 auth.
R. Redon,
S. Ishikawa,
Karen R. Fitch,
L. Feuk,
L. Feuk,
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T. Andrews,
H. Fiegler,
M. Shapero,
A. Carson,
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Wenwei Chen,
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J. GonzΓ‘lez,
M. GratacΓ³s,
Jing Huang,
Dimitrios Kalaitzopoulos,
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J. MacDonald,
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Kohji Okamura,
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F. Shen,
M. Somerville,
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A. Valsesia,
Cara Woodwark,
Fengtang Yang,
Junjun Zhang,
T. Zerjal,
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X. Estivill,
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12 |
2006 |
12
π
|
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π¦
|
Origins and functional impact of copy number variation in the human genome
24 auth.
D. Conrad,
D. Pinto,
R. Redon,
L. Feuk,
O. Gokcumen,
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J. Aerts,
P. Campbell,
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K. Kristiansson,
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Ifejinelo Onyiah,
Andy Wing Chun,
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10 |
2010 |
10
π¦
|
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π
|
Guidelines for investigating causality of sequence variants in human disease
32 auth.
D. MacArthur,
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T. Manolio,
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H. Rehm,
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10 |
2014 |
10
π
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π
|
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
51 auth.
D. MacArthur,
S. Balasubramanian,
A. Frankish,
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Q. Ayub,
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C. Amid,
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A. Bignell,
Catherine Snow,
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10 |
2012 |
10
π
|
|
π
|
Mapping copy number variation by population scale genome sequencing
57 auth.
Ryan E. Mills,
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C. Stewart,
R. Handsaker,
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C. Alkan,
A. Abyzov,
Seungtai Yoon,
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F. Hormozdiari,
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Z. Iqbal,
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J. Kidd,
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Ekta Khurana,
Deniz Kura,
Hugo Y. K. Lam,
Jing Leng,
Ruiqiang Li,
Yingrui Li,
Chang-Yun Lin,
Ruibang Luo,
X. Mu,
J. Nemesh,
H. Peckham,
T. Rausch,
A. Scally,
Xinghua Shi,
Michael P. Stromberg,
A. StΓΌtz,
A. Urban,
Jerilyn A. Walker,
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Yujun Zhang,
Zhengdong D. Zhang,
M. Batzer,
L. Ding,
G. T. Marth,
G. McVean,
J. Sebat,
M. Snyder,
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E. Eichler,
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10 |
2010 |
10
π
|
|
π
|
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
253 auth.
A. Barbeira,
Scott P. Dickinson,
Rodrigo Bonazzola,
Jiamao Zheng,
H. Wheeler,
Jason M. Torres,
E. Torstenson,
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Tzintzuni I. Garcia,
T. Edwards,
E. Stahl,
L. Huckins,
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K. Ardlie,
Beryl B. Cummings,
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Ellen T. Gelfand,
G. Getz,
Kane Hadley,
R. Handsaker,
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Seva Kashin,
K. Karczewski,
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D. MacArthur,
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M. Noble,
A. Segrè,
Casandra A. Trowbridge,
T. Tukiainen,
Nathan S. Abell,
Brunilda Balliu,
Ruth Barshir,
Omer Basha,
A. Battle,
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Stephane E. Castel,
Lin S. Chen,
Colby Chiang,
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Farhan N. Damani,
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O. Delaneau,
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L. FrΓ©sard,
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Genna Gliner,
Michael J. Gloudemans,
R. GuigΓ³,
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F. Hormozdiari,
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Brian Jo,
Eun Yong Kang,
Yungil Kim,
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T. Lappalainen,
Gen Li,
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M. McCarthy,
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Jean Monlong,
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Manuel MuΓ±oz-Aguirre,
Anne W. Ndungu,
A. Nobel,
Meritxell Oliva,
H. Ongen,
John Palowitch,
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9 |
2016 |
9
π
|
|
π¦
|
A high-resolution survey of deletion polymorphism in the human genome
D. Conrad,
T. Andrews,
N. Carter,
M. Hurles,
J. Pritchard
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9 |
2006 |
9
π¦
|
|
π
|
Recurrent 16p11.2 microdeletions in autism.
11 auth.
Ravinesh A. Kumar,
Samer Karamohamed,
Jyotsna Sudi,
D. Conrad,
Camille W. Brune,
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T. Gilliam,
N. Nowak,
E. Cook,
W. Dobyns,
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9 |
2007 |
9
π
|
|
π¦
|
Variation in genome-wide mutation rates within and between human families
17 auth.
D. Conrad,
Jonathan E. M. Keebler,
M. DePristo,
S. Lindsay,
Yujun Zhang,
F. Casals,
Y. Idaghdour,
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G. Rouleau,
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P. Awadalla
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9 |
2011 |
9
π¦
|
|
π¦
|
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
7 auth.
D. Conrad,
M. Jakobsson,
G. Coop,
Xiaoquan Wen,
J. Wall,
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...
J. Pritchard
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9 |
2006 |
9
π¦
|
|
π
|
Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls
217 auth.
N. Craddock,
M. Hurles,
Niall J. Cardin,
R. Pearson,
V. Plagnol,
S. Robson,
Damjan Vukcevic,
Chris P. Barnes,
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9 |
2010 |
9
π
|
|
π
|
Dynamic landscape and regulation of RNA editing in mammals
29 auth.
M. Tan,
Qin Li,
Raghuvaran Shanmugam,
Robert Piskol,
J. Kohler,
Amy N. Young,
K. I. Liu,
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8 |
2017 |
8
π
|
|
π
|
The impact of structural variation on human gene expression
13 auth.
Colby Chiang,
Alexandra J. Scott,
Joe R. Davis,
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Xin Li,
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...
A. Battle,
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Ira M. Hall
|
8 |
2016 |
8
π
|
