Whole genome burden testing in 333,100 individuals identifies novel rare non-coding associations with height

被引：0

作者：

Hawkes, Gareth ^{[1
]}

Beaumont, Robin ^{[1
]}

Li, Zilin ^{[2
]}

Mandla, Ravi ^{[3
]}

Li, Xihao ^{[4
]}

Manning, Alisa ^{[3
]}

Lin, Xihong ^{[4
]}

Wright, Caroline ^{[1
]}

Wood, Andrew ^{[1
]}

Frayling, Timothy M. ^{[1
]}

Weedon, Michael ^{[1
]}

机构：

[1] Univ Exeter, Exeter, Devon, England

[2] Indiana Univ, Dept Biostat & Hlth Data Sci, W Lafayette, IN USA

[3] MGH Clin & Translat Epidemiol Unit, Boston, MA USA

[4] Harvard TH Chan Sch Publ Hlth, Boston, MA USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

C26.4

引用

页码：65 / 66

页数：2

共 27 条

[1] Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height
Hawkes, Gareth
Beaumont, Robin N.
Li, Zilin
Mandla, Ravi
Li, Xihao
Albert, Christine M.
Arnett, Donna K.
Ashley-Koch, Allison E.
Ashrani, Aneel A.
Barnes, Kathleen C.
Boerwinkle, Eric
Brody, Jennifer A.
Carson, April P.
Chami, Nathalie
Chen, Yii-Der Ida
Chung, Mina K.
Curran, Joanne E.
Darbar, Dawood
Ellinor, Patrick T.
Fornage, Myrian
Gordeuk, Victor R.
Guo, Xiuqing
He, Jiang
Hwu, Chii-Min
Kalyani, Rita R.
Kaplan, Robert
Kardia, Sharon L. R.
Kooperberg, Charles
Loos, Ruth J. F.
Lubitz, Steven A.
Minster, Ryan L.
Naseri, Take
Viali, Satupa'itea
Mitchell, Braxton D.
Murabito, Joanne M.
Palmer, Nicholette D.
Psaty, Bruce M.
Redline, Susan
Shoemaker, M. Benjamin
Silverman, Edwin K.
Telen, Marilyn J.
Weiss, Scott T.
Yanek, Lisa R.
Zhou, Hufeng
Liu, Ching-Ti
North, Kari E.
Justice, Anne E.
Locke, Jonathan M.
Owens, Nick
Murray, Anna
NATURE COMMUNICATIONS, 2024, 15 (01)
[2] Rare variant association testing in the non-coding genome
Bocher, Ozvan
Genin, Emmanuelle
HUMAN GENETICS, 2020, 139 (11) : 1345 - 1362
[3] Rare variant association testing in the non-coding genome
Ozvan Bocher
Emmanuelle Génin
Human Genetics, 2020, 139 : 1345 - 1362
[4] A novel measure of non-coding genome conservation identifies genomic regulatory blocks within primates
Nash, Alexander J.
Lenhard, Boris
BIOINFORMATICS, 2019, 35 (14) : 2354 - 2361
[5] Novel Non-Coding, Coding and Structural Variants in Hairy Cell Leukemia from Whole Genome Transcriptome Sequencing
Blombery, Piers
Walter, Wencke
Hutter, Stephan
Baer, Constance
Sakuma, Maki
Mueller, Heiko
Wu, Simon
Caldwell, Imogen R.
Kern, Wolfgang
Meggendorfer, Manja
Haferlach, Claudia
Haferlach, Torsten
BLOOD, 2022, 140 : 3546 - 3547
[6] Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Pagnamenta, Alistair T.
Camps, Carme
Giacopuzzi, Edoardo
Taylor, John M.
Hashim, Mona
Calpena, Eduardo
Kaisaki, Pamela J.
Hashimoto, Akiko
Yu, Jing
Sanders, Edward
Schwessinger, Ron
Hughes, Jim R.
Lunter, Gerton
Dreau, Helene
Ferla, Matteo
Lange, Lukas
Kesim, Yesim
Ragoussis, Vassilis
Vavoulis, Dimitrios V.
Allroggen, Holger
Ansorge, Olaf
Babbs, Christian
Banka, Siddharth
Banos-Pinero, Benito
Beeson, David
Ben-Ami, Tal
Bennett, David L.
Bento, Celeste
Blair, Edward
Brasch-Andersen, Charlotte
Bull, Katherine R.
Cario, Holger
Cilliers, Deirdre
Conti, Valerio
Davies, E. Graham
Dhalla, Fatima
Dacal, Beatriz Diez
Dong, Yin
Dunford, James E.
Guerrini, Renzo
Harris, Adrian L.
Hartley, Jane
Hollander, Georg
Javaid, Kassim
Kane, Maureen
Kelly, Deirdre
Kelly, Dominic
Knight, Samantha J. L.
Kreins, Alexandra Y.
Kvikstad, Erika M.
GENOME MEDICINE, 2023, 15 (01)
[7] Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Alistair T. Pagnamenta
Carme Camps
Edoardo Giacopuzzi
John M. Taylor
Mona Hashim
Eduardo Calpena
Pamela J. Kaisaki
Akiko Hashimoto
Jing Yu
Edward Sanders
Ron Schwessinger
Jim R. Hughes
Gerton Lunter
Helene Dreau
Matteo Ferla
Lukas Lange
Yesim Kesim
Vassilis Ragoussis
Dimitrios V. Vavoulis
Holger Allroggen
Olaf Ansorge
Christian Babbs
Siddharth Banka
Benito Baños-Piñero
David Beeson
Tal Ben-Ami
David L. Bennett
Celeste Bento
Edward Blair
Charlotte Brasch-Andersen
Katherine R. Bull
Holger Cario
Deirdre Cilliers
Valerio Conti
E. Graham Davies
Fatima Dhalla
Beatriz Diez Dacal
Yin Dong
James E. Dunford
Renzo Guerrini
Adrian L. Harris
Jane Hartley
Georg Hollander
Kassim Javaid
Maureen Kane
Deirdre Kelly
Dominic Kelly
Samantha J. L. Knight
Alexandra Y. Kreins
Erika M. Kvikstad
Genome Medicine, 15
[8] Whole Genome Sequencing in Idiopathic and Familial Pulmonary Arterial Hypertension Reveals Causal Rare Coding and Non-coding Sequence Variation
Graf, Stefan
Bleda, Marta
Haddinapola, Charaka
Haimel, Matthias
Bogaard, Harm J.
Coglan, Gerry
Corris, Paul A.
Gibbs, J. S.
Humbert, Marc
Kiely, David G.
Laurie, Allan
Machado, Rajiv D.
Peacock, Andrew J.
Pepke-Zaba, Joanna
Toshner, Mark
Trembath, Richard C.
Noordegraaf, Anton Vonk
Wharton, John
Wilkins, Martin
Wort, Stephen J.
Morrell, Nicholas W.
CIRCULATION, 2016, 134
[9] Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Valero, Marta del Pozo
Bauwens, Miriam
De Bruyne, Marieke
Van den Broeck, Filip
Dulst, Stephanie
Mahieu, Quinten
Meunier, Audrey
de Ravel, Thomy
Ruys, Joke
Van Heetvelde, Mattias
Rey, Alfredo Duenas
Balikova, Irina
Vermeer, Sascha
De Zaeytijd, Julie
Leroy, Bart
De Baere, Elfride
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 41 - 41
[10] Whole genome sequencing delineates novel non-coding variants and candidate genes in inherited retinal diseases
Valero, Marta
Bauwens, Miriam
De Bruyne, Marieke
Van den Broeck, Filip
Dulst, Stephanie
Quinten, Quinten
Meunier, Audrey
de Ravel, Thomy
Ruys, Joke
Van Heetvelde, Mattias
Balikova, Irina
Vermeer, Sascha
De Zaeytijd, Julie
Leroy, Bart
De Baere, Elfride
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)

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