Whole Genome Sequencing in Idiopathic and Familial Pulmonary Arterial Hypertension Reveals Causal Rare Coding and Non-coding Sequence Variation

被引：0
|
作者：
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.
机构：
来源：
CIRCULATION | 2016年 / 134卷
关键词：
Genetics; Pulmonary hypertension;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
14413
引用
收藏
页数：3
相关论文
共 50 条
  • [31] Identification of non-coding RNA signatures in idiopathic pulmonary fibrosis
    Elek, Alperen
    Bozgeyik, Esra
    Caska, Halil
    Gocer, Zekihan
    Bozgeyik, Ibrahim
    [J]. IRISH JOURNAL OF MEDICAL SCIENCE, 2024, 193 (04) : 1923 - 1927
  • [32] Functional interpretation of non-coding sequence variation: Concepts and challenges
    Paul, Dirk S.
    Soranzo, Nicole
    Beck, Stephan
    [J]. BIOESSAYS, 2014, 36 (02) : 191 - 199
  • [33] Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
    Varela, Malena Daich
    Bellingham, James
    Motta, Fabiana
    Jurkute, Neringa
    Ellingford, Jamie M.
    Quinodoz, Mathieu
    Oprych, Kathryn
    Niblock, Michael
    Janeschitz-Kriegl, Lucas
    Kaminska, Karolina
    Cancellieri, Francesca
    Scholl, Hendrik P. N.
    Lenassi, Eva
    Schiff, Elena
    Knight, Hannah
    Black, Graeme
    Rivolta, Carlo
    Cheetham, Michael E.
    Michaelides, Michel
    Mahroo, Omar A.
    Moore, Anthony T.
    Webster, Andrew R.
    Arno, Gavin
    [J]. HUMAN MOLECULAR GENETICS, 2023, 32 (04) : 595 - 607
  • [34] Whole Genome Sequencing Reveals the Extent of Structural Variants in Multiple Myeloma and Identifies Recurrent Mutational Hotspots within the Non-Coding Regions
    Ashby, Cody Cody
    Bauer, Michael
    Stephens, Owen W.
    Wardell, Christopher P.
    Tytarenko, Ruslana G.
    Mikulasova, Aneta
    Patel, Purvi
    Deshpande, Shayu
    van Rhee, Frits
    Zangari, Maurizio
    Thanendrarajan, Sharmilan
    Schinke, Carolina D.
    Weinhold, Niels
    Rasche, Leo
    Davies, Faith E.
    Morgan, Gareth J.
    Walker, Brian A.
    [J]. BLOOD, 2017, 130
  • [35] 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
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 41 - 41
  • [36] 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
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, 64 (08)
  • [37] GeneCaRNA: A gene-centric non-coding RNA compendium for disease decipherment by whole genome sequencing
    Aggarwal, Shalini
    Barshir, Ruth
    Fishilevich, Simon
    Rosenblum, Chana
    Iny-Stein, Tsippi
    Zelig, Ofer
    Guan-Golan, Yaron
    Safran, Marilyn
    Pietrokovski, Shmuel
    Lancet, Doron
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 300 - 301
  • [38] GenoMiner:: a tool for genome-wide search of coding and non-coding conserved sequence tags
    Castrignanò, T
    De Meo, PD
    Grillo, G
    Liuni, S
    Mignone, F
    Talamo, IG
    Pesole, G
    [J]. BIOINFORMATICS, 2006, 22 (04) : 497 - 499
  • [39] Whole-genome sequencing identified novel non-coding mutations causal of oncogene activation in T-cell acute lymphoblastic leukemia
    Qian, Maoxiang
    Hu, Shaoyan
    Zhang, Hui
    Guo, Yu
    Yang, Jin
    Zhao, Xujie
    Wan, Lin
    Lu, Jun
    Pan, Jian
    Chang, Meimei
    Kham, Shirley K.
    Cheng, Yong
    Li, Chunliang
    Yeoh, Allen E.
    Skanderup, Anders
    Yang, Jun J.
    [J]. CANCER RESEARCH, 2017, 77
  • [40] Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
    Yury A. Barbitoff
    Dmitrii E. Polev
    Andrey S. Glotov
    Elena A. Serebryakova
    Irina V. Shcherbakova
    Artem M. Kiselev
    Anna A. Kostareva
    Oleg S. Glotov
    Alexander V. Predeus
    [J]. Scientific Reports, 10
12345