Use of Contemporary Genetics in Cardiovascular Diagnosis

被引:5
作者
George, Alfred L., Jr. [1 ,2 ]
机构
[1] Northwestern Univ, Feinberg Sch Med, Dept Pharmacol, Chicago, IL 60611 USA
[2] Northwestern Univ, Feinberg Sch Med, Ctr Pharmacogen, Chicago, IL 60611 USA
基金
美国国家卫生研究院;
关键词
genes; genetic testing; mutation; pharmacogenetics; polymorphism; genetic; LONG QT SYNDROME; IMPLEMENTATION CONSORTIUM GUIDELINES; SUDDEN UNEXPLAINED DEATH; ACMG RECOMMENDATIONS; INCIDENTAL FINDINGS; CLINICAL IMPLEMENTATION; VARIANT CLASSIFICATION; RANDOMIZED-TRIAL; HIGH PREVALENCE; CPIC GUIDELINE;
D O I
10.1161/CIRCULATIONAHA.114.006511
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:1971 / U130
页数:19
相关论文
共 83 条
[1]  
Ackerman MJ, 2011, HEART RHYTHM, V8, P1308, DOI [10.1016/j.hrthm.2011.05.020, 10.1093/europace/eur245]
[2]   A method and server for predicting damaging missense mutations [J].
Adzhubei, Ivan A. ;
Schmidt, Steffen ;
Peshkin, Leonid ;
Ramensky, Vasily E. ;
Gerasimova, Anna ;
Bork, Peer ;
Kondrashov, Alexey S. ;
Sunyaev, Shamil R. .
NATURE METHODS, 2010, 7 (04) :248-249
[3]   An integrated map of genetic variation from 1,092 human genomes [J].
Altshuler, David M. ;
Durbin, Richard M. ;
Abecasis, Goncalo R. ;
Bentley, David R. ;
Chakravarti, Aravinda ;
Clark, Andrew G. ;
Donnelly, Peter ;
Eichler, Evan E. ;
Flicek, Paul ;
Gabriel, Stacey B. ;
Gibbs, Richard A. ;
Green, Eric D. ;
Hurles, Matthew E. ;
Knoppers, Bartha M. ;
Korbel, Jan O. ;
Lander, Eric S. ;
Lee, Charles ;
Lehrach, Hans ;
Mardis, Elaine R. ;
Marth, Gabor T. ;
McVean, Gil A. ;
Nickerson, Deborah A. ;
Schmidt, Jeanette P. ;
Sherry, Stephen T. ;
Wang, Jun ;
Wilson, Richard K. ;
Gibbs, Richard A. ;
Dinh, Huyen ;
Kovar, Christie ;
Lee, Sandra ;
Lewis, Lora ;
Muzny, Donna ;
Reid, Jeff ;
Wang, Min ;
Wang, Jun ;
Fang, Xiaodong ;
Guo, Xiaosen ;
Jian, Min ;
Jiang, Hui ;
Jin, Xin ;
Li, Guoqing ;
Li, Jingxiang ;
Li, Yingrui ;
Li, Zhuo ;
Liu, Xiao ;
Lu, Yao ;
Ma, Xuedi ;
Su, Zhe ;
Tai, Shuaishuai ;
Tang, Meifang .
NATURE, 2012, 491 (7422) :56-65
[4]  
American College of Medical Genetics and Genomics, 2014, ACMG UPD REC OPT OUT
[5]   Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data [J].
Andreasen, Charlotte ;
Refsgaard, Lena ;
Nielsen, Jonas B. ;
Sajadieh, Ahmad ;
Winkel, Bo G. ;
Tfelt-Hansen, Jacob ;
Haunso, Stig ;
Holst, Anders G. ;
Svendsen, Jesper H. ;
Olesen, Morten S. .
CANADIAN JOURNAL OF CARDIOLOGY, 2013, 29 (09) :1104-1109
[6]  
Annas GJ, 2014, NEW ENGL J MED, V370, P985, DOI [10.1056/NEJMp1316367, 10.1056/NEJMc1404692]
[7]   Exome sequencing as a tool for Mendelian disease gene discovery [J].
Bamshad, Michael J. ;
Ng, Sarah B. ;
Bigham, Abigail W. ;
Tabor, Holly K. ;
Emond, Mary J. ;
Nickerson, Deborah A. ;
Shendure, Jay .
NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755
[8]   PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations [J].
Bendl, Jaroslav ;
Stourac, Jan ;
Salanda, Ondrej ;
Pavelka, Antonin ;
Wieben, Eric D. ;
Zendulka, Jaroslav ;
Brezovsky, Jan ;
Damborsky, Jiri .
PLOS COMPUTATIONAL BIOLOGY, 2014, 10 (01)
[9]   Recommendations from the EGAPP Working Group: Genomic profiling to assess cardiovascular risk to improve cardiovascular health [J].
Berg, Alfred O. ;
Botkin, Jeffrey ;
Calonge, Ned ;
Campos-Outcalt, Doug ;
Haddow, James E. ;
Hayes, Maxine ;
Kaye, Celia ;
Klein, Roger D. ;
Offit, Kenneth ;
Pauker, Stephen G. ;
Piper, Margaret ;
Richards, Carolyn Sue ;
Scott, Joan A. ;
Strickland, Ora L. ;
Teutsch, Steven ;
Veenstra, David L. .
GENETICS IN MEDICINE, 2010, 12 (12) :839-843
[10]   Direct-to-consumer personalized genomic testing [J].
Bloss, Cinnamon S. ;
Darst, Burcu F. ;
Topol, Eric J. ;
Schork, Nicholas J. .
HUMAN MOLECULAR GENETICS, 2011, 20 :R132-R141