Meta-analysis of gene-level associations for rare variants based on single-variant statistics
(321)
Hu, Yi Juan
a,j
Berndt, Sonja I
b,j
Gustafsson, Stefan
c,j
Ganna, Andrea
c,d,j
Ingelsson, Erik
c,i,j
Hirschhorn, Joel
e,f,g
North, Kari E
h,j
Lin, Dan Yu
h,j
Mägi, Reedik
j
Wheeler, Eleanor
j
Feitosa, Mary F
j
Justice, Anne E
j
Monda, Keri L
j
Croteau Chonka, Damien C
j
Day, Felix R
j
Esko, To˜nu
j
Fall, Tove
j
Ferreira, Teresa
j
Gentilini, Davide
j
Jackson, Anne U
j
Luan, Jian’an
j
Randall, Joshua C
j
Vedantam, Sailaja
j
Willer, Cristen J
j
Winkler, Thomas W
j
Wood, Andrew R
j
Workalemahu, Tsegaselassie
j
Lee, Sang Hong
j
Liang, Liming
j
Min, Josine L
j
Neale, Benjamin M
j
Thorleifsson, Gudmar
j
Yang, Jian
j
Albrecht, Eva
j
Amin, Najaf
j
Bragg Gresham, Jennifer L
j
Cadby, Gemma
j
Heijer, Martin den
j
Eklund, Niina
j
Fischer, Krista
j
Goel, Anuj
j
Hottenga, Jouke Jan
j
Huffman, Jennifer E
j
Jarick, Ivonne
j
Johansson, Asa
j
Johnson, Toby
j
Kanoni, Stavroula
j
Kleber, Marcus E
j
König, Inke R
j
Kristiansson, Kati
j
Kutalik, Zoltán
j
Lamina, Claudia
j
Lecoeur, Cecile
j
Li, Guo
j
Mangino, Massimo
j
McArdle, Wendy L
j
Medina Gomez, Carolina
j
Müller Nurasyid, Martina
j
Ngwa, Julius S
j
Nolte, Ilja M
j
Paternoster, Lavinia
j
Pechlivanis, Sonali
j
Perola, Markus
j
Peters, Marjolein J
j
Preuss, Michael
j
Rose, Lynda M
j
Shi, Jianxin
j
Shungin, Dmitry
j
Smith, Albert Vernon
j
Strawbridge, Rona J
j
Surakka, Ida
j
Teumer, Alexander
j
Trip, Mieke D
j
Tyrer, Jonathan
j
Vliet Ostaptchouk, Jana V Van
j
Vandenput, Liesbeth
j
Waite, Lindsay L
j
Zhao, Jing Hua
j
Absher, Devin
j
Asselbergs, Folkert W
j
Atalay, Mustafa
j
Attwood, Antony P
j
Balmforth, Anthony J
j
Basart, Hanneke
j
Beilby, John
j
Bonnycastle, Lori L
j
Brambilla, Paolo
j
Bruinenberg, Marcel
j
Campbell, Harry
j
Chasman, Daniel I
j
Chines, Peter S
j
Connell, John M
j
Cookson, William
j
Faire, Ulf de
j
Vegt, Femmie de
j
Dei, Mariano
j
Dimitriou, Maria
j
Edkins, Sarah
j
Estrada, Karol
j
Evans, David M
j
Farrall, Martin
j
Ferrario, Marco M
j
Ferrières, Jean
j
Franke, Lude
j
Frau, Francesca
j
Gejman, Pablo V
j
Grallert, Harald
j
Grönberg, Henrik
j
Gudnason, Vilmundur
j
Hall, Alistair S
j
Hall, Per
j
Hartikainen, Anna Liisa
j
Hayward, Caroline
j
Heard Costa, Nancy L
j
Heath, Andrew C
j
Hebebrand, Johannes
j
Homuth, Georg
j
Hu, Frank B
j
Hunt, Sarah E
j
Hyppönen, Elina
j
Iribarren, Carlos
j
Jacobs, Kevin B
j
Jansson, John Olov
j
Jula, Antti
j
Kähönen, Mika
j
Kathiresan, Sekar
j
Kee, Frank
j
Khaw, Kay Tee
j
Kivimaki, Mika
j
Koenig, Wolfgang
j
Kraja, Aldi T
j
Kumari, Meena
j
Kuulasmaa, Kari
j
Kuusisto, Johanna
j
Laitinen, Jaana H
j
Lakka, Timo A
j
Langenberg, Claudia
j
Launer, Lenore J
j
Lind, Lars
j
Lindström, Jaana
j
Liu, Jianjun
j
Liuzzi, Antonio
j
Lokki, Marja Liisa
j
Lorentzon, Mattias
j
Magnusson, Pamela A Madden
j
Magnusson, P A M
j
Manunta, Paolo
j
Marek, Diana
j
März, Winfried
j
Leach, Irene Mateo
j
McKnight, Barbara
j
Medland, Sarah E
j
Mihailov, Evelin
j
Milani, Lili
j
Montgomery, Grant W
j
Mooser, Vincent
j
Mühleisen, Thomas W
j
Munroe, Patricia B
j
Musk, Arthur W
j
Narisu, Narisu
j
Navis, Gerjan
j
Nicholson, George
j
Nohr, Ellen A
j
Ong, Ken K
j
Oostra, Ben A
j
Palmer, Colin N A
j
Palotie, Aarno
j
Peden, John F
j
Pedersen, Nancy
j
Peters, Annette
j
Polasek, Ozren
j
Pouta, Anneli
j
Pramstaller, Peter P
j
Prokopenko, Inga
j
Pütter, Carolin
j
Radhakrishnan, Aparna
j
Raitakari, Olli
j
Rendon, Augusto
j
Rivadeneira, Fernando
j
Rudan, Igor
j
Saaristo, Timo E
j
Sambrook, Jennifer G
j
Sanders, Alan R
j
Sanna, Serena
j
Saramies, Jouko
j
Schipf, Sabine
j
Schreiber, Stefan
j
Schunkert, Heribert
j
Shin, So Youn
j
Signorini, Stefano
j
Sinisalo, Juha
j
Skrobek, Boris
j
Soranzo, Nicole
j
Stancáková, Alena
j
Stark, Klaus
j
Stephens, Jonathan C
j
Stirrups, Kathleen
j
Stolk, Ronald P
j
Stumvoll, Michael
j
Swift, Amy J
j
Theodoraki, Eirini V
j
Thorand, Barbara
j
Tregouet, David Alexandre
j
Tremoli, Elena
j
Klauw, Melanie M Van der
j
Meurs, Joyce B J van
j
Vermeulen, Sita H
j
Viikari, Jorma
j
Virtamo, Jarmo
j
Vitart, Veronique
j
Waeber, Gérard
j
Wang, Zhaoming
j
Widén, Elisabeth
j
Wild, Sarah H
j
Willemsen, Gonneke
j
Winkelmann, Bernhard R
j
Witteman, Jacqueline C M
j
Wolffenbuttel, Bruce H R
j
Wong, Andrew
j
Wright, Alan F
j
Zillikens, M Carola
j
Amouyel, Philippe
j
Boehm, Bernhard O
j
Boerwinkle, Eric
j
Boomsma, Dorret I
j
Caulfield, Mark J
j
Chanock, Stephen J
j
Cupples, L Adrienne
j
Cusi, Daniele
j
Dedoussis, George V
j
Erdmann, Jeanette
j
Eriksson, Johan G
j
Franks, Paul W
j
Froguel, Philippe
j
Gieger, Christian
j
Gyllensten, Ulf
j
Hamsten, Anders
j
Harris, Tamara B
j
Hengstenberg, Christian
j
Hicks, Andrew A
j
Hingorani, Aroon
j
Hinney, Anke
j
Hofman, Albert
j
Hovingh, Kees G
j
Hveem, Kristian
j
Illig, Thomas
j
Jarvelin, Marjo Riitta
j
Jöckel, Karl Heinz
j
Keinanen Kiukaanniemi, Sirkka M
j
Kiemeney, Lambertus A
j
Kuh, Diana
j
Laakso, Markku
j
Lehtimäki, Terho
j
Levinson, Douglas F
j
Martin, Nicholas G
j
Metspalu, Andres
j
Morris, Andrew D
j
Nieminen, Markku S
j
Njølstad, Inger
j
Ohlsson, Claes
j
Oldehinkel, Albertine J
j
Ouwehand, Willem H
j
Palmer, Lyle J
j
Penninx, Brenda
j
Power, Chris
j
Province, Michael A
j
Psaty, Bruce M
j
Qi, Lu
j
Rauramaa, Rainer
j
Ridker, Paul M
j
Ripatti, Samuli
j
Salomaa, Veikko
j
Samani, Nilesh J
j
Snieder, Harold
j
Sørensen, Thorkild I A
j
Spector, Timothy D
j
Stefansson, Kari
j
Tönjes, Anke
j
Tuomilehto, Jaakko
j
Uitterlinden, André G
j
Uusitupa, Matti
j
Harst, Pim van der
j
Vollenweider, Peter
j
Wallaschofski, Henri
j
Wareham, Nicholas J
j
Watkins, Hugh
j
Wichmann, H Erich
j
Wilson, James F
j
Abecasis, Goncalo R
j
Assimes, Themistocles L
j
Barroso, Inês
j
Boehnke, Michael
j
Borecki, Ingrid B
j
Deloukas, Panos
j
Fox, Caroline S
j
Frayling, Timothy
j
Groop, Leif C
j
Haritunian, Talin
j
Heid, Iris M
j
Hunter, David
j
Kaplan, Robert C
j
Karpe,MiriamMoffatt, Fredrik
j
Mohlke, Karen L
j
O’Connell, Jeffrey R
j
Pawitan, Yudi
j
Schadt, Eric E
j
Schlessinger, David
j
Steinthorsdottir, Valgerdur
j
Strachan, David P
j
Thorsteinsdottir, Unnur
j
Duijn, Cornelia M van
j
Visscher, Peter M
j
Blasio, Anna Maria Di
j
Hirschhorn, Joel N
j
Lindgren, Cecilia M
j
Morris, Andrew P
j
Meyre, David
j
Scherag, André
j
McCarthy, Mark I
j
Speliotes, Elizabeth K
j
Loos, Ruth J F
j
more..
|
-
1
-
-
58149345887
-
Practical aspects of imputation-driven meta-analysis of genome-wide association studies
-
P.I.W. de Bakker, M.A.R. Ferreira, X. Jia, B.M. Neale, S. Raychaudhuri, and B.F. Voight Practical aspects of imputation-driven meta-analysis of genome-wide association studies Hum. Mol. Genet. 17 R2 2008 R122 R128
-
(2008)
Hum. Mol. Genet.
, vol.17
, Issue.R2
-
-
De Bakker, P.I.W.1
Ferreira, M.A.R.2
Jia, X.3
Neale, B.M.4
Raychaudhuri, S.5
Voight, B.F.6
-
2
-
-
65249183403
-
Meta-analysis in genome-wide association studies
-
E. Zeggini, and J.P.A. Ioannidis Meta-analysis in genome-wide association studies Pharmacogenomics 10 2009 191 201
-
(2009)
Pharmacogenomics
, vol.10
, pp. 191-201
-
-
Zeggini, E.1
Ioannidis, J.P.A.2
-
3
-
-
73149103718
-
Prioritizing GWAS results: A review of statistical methods and recommendations for their application
-
R.M. Cantor, K. Lange, and J.S. Sinsheimer Prioritizing GWAS results: A review of statistical methods and recommendations for their application Am. J. Hum. Genet. 86 2010 6 22
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 6-22
-
-
Cantor, R.M.1
Lange, K.2
Sinsheimer, J.S.3
-
4
-
-
75649083856
-
Meta-analysis of genome-wide association studies: No efficiency gain in using individual participant data
-
D.Y. Lin, and D. Zeng Meta-analysis of genome-wide association studies: no efficiency gain in using individual participant data Genet. Epidemiol. 34 2010 60 66
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 60-66
-
-
Lin, D.Y.1
Zeng, D.2
-
5
-
-
77952851091
-
On the relative efficiency of using summary statistics versus individual-level data in meta-analysis
-
D.Y. Lin, and D. Zeng On the relative efficiency of using summary statistics versus individual-level data in meta-analysis Biometrika 97 2010 321 332
-
(2010)
Biometrika
, vol.97
, pp. 321-332
-
-
Lin, D.Y.1
Zeng, D.2
-
6
-
-
38749145596
-
Shifting paradigm of association studies: Value of rare single-nucleotide polymorphisms
-
I.P. Gorlov, O.Y. Gorlova, S.R. Sunyaev, M.R. Spitz, and C.I. Amos Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms Am. J. Hum. Genet. 82 2008 100 112
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 100-112
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Sunyaev, S.R.3
Spitz, M.R.4
Amos, C.I.5
-
8
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
B. Li, and S.M. Leal Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data Am. J. Hum. Genet. 83 2008 311 321
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
9
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
B.E. Madsen, and S.R. Browning A groupwise association test for rare mutations using a weighted sum statistic PLoS Genet. 5 2009 e1000384
-
(2009)
PLoS Genet.
, vol.5
, pp. 1000384
-
-
Madsen, B.E.1
Browning, S.R.2
-
10
-
-
76649136928
-
An evaluation of statistical approaches to rare variant analysis in genetic association studies
-
A.P. Morris, and E. Zeggini An evaluation of statistical approaches to rare variant analysis in genetic association studies Genet. Epidemiol. 34 2010 188 193
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 188-193
-
-
Morris, A.P.1
Zeggini, E.2
-
11
-
-
77953121877
-
Pooled association tests for rare variants in exon-resequencing studies
-
A.L. Price, G.V. Kryukov, P.I.W. de Bakker, S.M. Purcell, J. Staples, L.J. Wei, and S.R. Sunyaev Pooled association tests for rare variants in exon-resequencing studies Am. J. Hum. Genet. 86 2010 832 838
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 832-838
-
-
Price, A.L.1
Kryukov, G.V.2
De Bakker, P.I.W.3
Purcell, S.M.4
Staples, J.5
Wei, L.J.6
Sunyaev, S.R.7
-
12
-
-
80052731371
-
A general framework for detecting disease associations with rare variants in sequencing studies
-
D.Y. Lin, and Z.Z. Tang A general framework for detecting disease associations with rare variants in sequencing studies Am. J. Hum. Genet. 89 2011 354 367
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 354-367
-
-
Lin, D.Y.1
Tang, Z.Z.2
-
13
-
-
35348887757
-
Haplotype-based association analysis via variance-components score test
-
J.Y. Tzeng, and D. Zhang Haplotype-based association analysis via variance-components score test Am. J. Hum. Genet. 81 2007 927 938
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 927-938
-
-
Tzeng, J.Y.1
Zhang, D.2
-
14
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
B.M. Neale, M.A. Rivas, B.F. Voight, D. Altshuler, B. Devlin, M. Orho-Melander, S. Kathiresan, S.M. Purcell, K. Roeder, and M.J. Daly Testing for an unusual distribution of rare variants PLoS Genet. 7 2011 e1001322
-
(2011)
PLoS Genet.
, vol.7
, pp. 1001322
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
Altshuler, D.4
Devlin, B.5
Orho-Melander, M.6
Kathiresan, S.7
Purcell, S.M.8
Roeder, K.9
Daly, M.J.10
-
15
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
M.C. Wu, S. Lee, T. Cai, Y. Li, M. Boehnke, and X. Lin Rare-variant association testing for sequencing data with the sequence kernel association test Am. J. Hum. Genet. 89 2011 82 93
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
Li, Y.4
Boehnke, M.5
Lin, X.6
-
16
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium An integrated map of genetic variation from 1,092 human genomes Nature 491 2012 56 65
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
-
17
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
International HapMap Consortium
-
K.A. Frazer, D.G. Ballinger, D.R. Cox, D.A. Hinds, L.L. Stuve, R.A. Gibbs, J.W. Belmont, A. Boudreau, P. Hardenbol, S.M. Leal International HapMap Consortium A second generation human haplotype map of over 3.1 million SNPs Nature 449 2007 851 861
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
Belmont, J.W.7
Boudreau, A.8
Hardenbol, P.9
Leal, S.M.10
-
18
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Broad GO Seattle GO NHLBI Exome Sequencing Project
-
J.A. Tennessen, A.W. Bigham, T.D. O'Connor, W. Fu, E.E. Kenny, S. Gravel, S. McGee, R. Do, X. Liu, G. Jun Broad GO Seattle GO NHLBI Exome Sequencing Project Evolution and functional impact of rare coding variation from deep sequencing of human exomes Science 337 2012 64 69
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
-
19
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
H. Lango Allen, K. Estrada, G. Lettre, S.I. Berndt, M.N. Weedon, F. Rivadeneira, C.J. Willer, A.U. Jackson, S. Vedantam, and S. Raychaudhuri Hundreds of variants clustered in genomic loci and biological pathways affect human height Nature 467 2010 832 838
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
Rivadeneira, F.6
Willer, C.J.7
Jackson, A.U.8
Vedantam, S.9
Raychaudhuri, S.10
-
20
-
-
84878594902
-
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
-
S.I. Berndt, S. Gustafsson, R. Mägi, A. Ganna, E. Wheeler, M.F. Feitosa, A.E. Justice, K.L. Monda, D.C. Croteau-Chonka, and F.R. Day Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture Nat. Genet. 45 2013 501 512
-
(2013)
Nat. Genet.
, vol.45
, pp. 501-512
-
-
Berndt, S.I.1
Gustafsson, S.2
Mägi, R.3
Ganna, A.4
Wheeler, E.5
Feitosa, M.F.6
Justice, A.E.7
Monda, K.L.8
Croteau-Chonka, D.C.9
Day, F.R.10
-
21
-
-
0024591825
-
The Atherosclerosis Risk in Communities (ARIC) Study: Design and objectives
-
The ARIC Investigators
-
The ARIC Investigators The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives Am. J. Epidemiol. 129 1989 687 702
-
(1989)
Am. J. Epidemiol.
, vol.129
, pp. 687-702
-
-
-
22
-
-
37549033488
-
GWAsimulator: A rapid whole-genome simulation program
-
C. Li, and M. Li GWAsimulator: a rapid whole-genome simulation program Bioinformatics 24 2008 140 142
-
(2008)
Bioinformatics
, vol.24
, pp. 140-142
-
-
Li, C.1
Li, M.2
-
23
-
-
84880672305
-
Quantitative trait analysis in sequencing studies under trait-dependent sampling
-
10.1073/pnas.1221713110 Published online July 11, 2013
-
D.Y. Lin, D. Zeng, and Z.Z. Tang Quantitative trait analysis in sequencing studies under trait-dependent sampling Proc. Natl. Acad. Sci. USA 2013 10.1073/pnas.1221713110 Published online July 11, 2013
-
(2013)
Proc. Natl. Acad. Sci. USA
-
-
Lin, D.Y.1
Zeng, D.2
Tang, Z.Z.3
|