换一批
换一批Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
作者：
Xiaolei,Zhang [1]
;
Roddy,Walsh [2]
;
Nicola,Whiffin [1]
;
Rachel,Buchan [2]
;
William,Midwinter [1]
;
Alicja,Wilk [2]
;
Risha,Govind [1]
;
Nicholas,Li [2]
;
Mian,Ahmad [1]
;
Francesco,Mazzarotto [2]
;
Angharad,Roberts [1]
;
Pantazis I,Theotokis [2]
;
Erica,Mazaika [1]
;
Mona,Allouba [2]
;
Antonio,de Marvao [2]
;
Chee Jian,Pua [3]
;
Sharlene M,Day [1]
;
Euan,Ashley [2]
;
Steven D,Colan [1]
;
Michelle,Michels [4]
;
Alexandre C,Pereira [5]
;
Daniel,Jacoby [1]
;
Carolyn Y,Ho [2]
;
Iacopo,Olivotto [1]
;
Gunnar T,Gunnarsson [2]
;
John L,Jefferies [1]
;
Chris,Semsarian [2]
;
Jodie,Ingles [1]
;
Declan P,O'Regan [6]
;
Yasmine,Aguib [3]
;
Magdi H,Yacoub [7]
;
Stuart A,Cook [8]
;
Paul J R,Barton [9]
;
Leonardo,Bottolo [10]
;
James S,Ware [11]
作者单位：
National Heart and Lung Institute, Imperial College London, London, United Kingdom.
[1]
Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom.
[2]
MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom.
[3]
Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.
[4]
Department of Clinical and Experimental Medicine, University of Florence, Florence, Italy.
[5]
Aswan Heart Centre, Magdi Yacoub Heart Foundation, Aswan, Egypt.
[6]
National Heart Centre, Singapore, Singapore.
[7]
Division of Cardiovascular Medicine and Penn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
[8]
Division of Cardiovascular Medicine, Stanford University Medical Center, Stanford, CA, USA.
[9]
Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
[10]
Department of Cardiology, Thoraxcenter, Erasmus MC Rotterdam, Rotterdam, Netherlands.
[11]
Heart Institute (InCor), University of Sao Paulo Medical School, Sao Paulo, Brazil.
[12]
Department of Internal Medicine, Yale University, New Haven, CT, USA.
[13]
Cardiovascular Division, Brigham and Women's Hospital, Boston, MA, USA.
[14]
Faculty of Medicine, University of Iceland, Akureyri, Iceland.
[15]
The Cardiovascular Institute, University of Tennessee, Memphis, TN, USA.
[16]
Centenary Institute, The University of Sydney, Sydney, Australia.
[17]
Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
[18]
Duke-National University of Singapore, Singapore, Singapore.
[19]
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. lb664@cam.ac.uk.
[20]
Alan Turing Institute, London, United Kingdom. lb664@cam.ac.uk.
[21]
MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom. lb664@cam.ac.uk.
[22]
National Heart and Lung Institute, Imperial College London, London, United Kingdom. j.ware@imperial.ac.uk.
[23]
Cardiovascular Research Centre, Royal Brompton and Harefield NHS, Foundation Trust London, London, United Kingdom. j.ware@imperial.ac.uk.
[24]
MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom. j.ware@imperial.ac.uk.
[25]
主题词
算法(Algorithms);曲线下面积(Area Under Curve);心肌疾病(Cardiomyopathies);人类(Humans);中年人(Middle Aged);突变, 误义(Mutation, Missense);毒力(Virulence)
DOI
10.1038/s41436-020-00972-3
PMID
33046849
发布时间
2024-03-13
- 浏览1
Genetics in medicine
Genetics in medicine
69-79页
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