Sequencing: The Next Generation-What Is the Role of Whole-Exome Sequencing in the Diagnosis of Familial Cardiovascular Diseases?

被引：8

作者：

Farhan, Sali M. K.

Hegele, Robert A.

机构：

[1] Western Univ, Schulich Sch Med & Dent, Robarts Res Inst, Dept Biochem, London, ON N6A 5B7, Canada

[2] Western Univ, Schulich Sch Med & Dent, Robarts Res Inst, Dept Med, London, ON N6A 5B7, Canada

来源：

CANADIAN JOURNAL OF CARDIOLOGY | 2014年 / 30卷 / 02期

基金：

加拿大健康研究院;

关键词：

RARE-DISEASE; GENETICS;

D O I：

10.1016/j.cjca.2013.12.024

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

引用

收藏

页码：152 / 154

页数：3

相关论文

共 11 条

[1]

Whole exome and whole genome sequencing [J].

Bick, David ;

Dimmock, David .

CURRENT OPINION IN PEDIATRICS, 2011, 23 (06) :594-600

[2]

Rare-disease genetics in the era of next-generation sequencing: discovery to translation [J].

Boycott, Kym M. ;

Vanstone, Megan R. ;

Bulman, Dennis E. ;

MacKenzie, Alex E. .

NATURE REVIEWS GENETICS, 2013, 14 (10) :681-691

[3]

First FDA Authorization for Next-Generation Sequencer [J].

Collins, Francis S. ;

Hamburg, Margaret A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2013, 369 (25) :2369-2371

[4]

Genetics 100 for Cardiologists: Basics of Genome-Wide Association Studies [J].

Dube, Joseph B. ;

Hegele, Robert A. .

CANADIAN JOURNAL OF CARDIOLOGY, 2013, 29 (01) :10-17

[5]

Next-Generation Sequence Assembly: Four Stages of Data Processing and Computational Challenges [J].

El-Metwally, Sara ;

Hamza, Taher ;

Zakaria, Magdi ;

Helmy, Mohamed .

PLOS COMPUTATIONAL BIOLOGY, 2013, 9 (12)

[6]

Genetics 101 for Cardiologists: Rare Genetic Variants and Monogenic Cardiovascular Disease [J].

Farhan, Sali M. K. ;

Hegele, Robert A. .

CANADIAN JOURNAL OF CARDIOLOGY, 2013, 29 (01) :18-22

[7]

Exome Sequencing Identifies a Novel Variant in ACTC1 Associated With Familial Atrial Septal Defect [J].

Greenway, Steven C. ;

McLeod, Ross ;

Hume, Stacey ;

Roslin, Nicole M. ;

Alvarez, Nanette ;

Giuffre, Michael ;

Zhan, Shing H. ;

Shen, Yaoqing ;

Preuss, Christoph ;

Andelfinger, Gregor ;

Jones, Steven J. M. ;

Gerull, Brenda .

CANADIAN JOURNAL OF CARDIOLOGY, 2014, 30 (02) :181-187

[8]

Initial sequencing and analysis of the human genome [J].

Lander, ES ;

Int Human Genome Sequencing Consortium ;

Linton, LM ;

Birren, B ;

Nusbaum, C ;

Zody, MC ;

Baldwin, J ;

Devon, K ;

Dewar, K ;

Doyle, M ;

FitzHugh, W ;

Funke, R ;

Gage, D ;

Harris, K ;

Heaford, A ;

Howland, J ;

Kann, L ;

Lehoczky, J ;

LeVine, R ;

McEwan, P ;

McKernan, K ;

Meldrim, J ;

Mesirov, JP ;

Miranda, C ;

Morris, W ;

Naylor, J ;

Raymond, C ;

Rosetti, M ;

Santos, R ;

Sheridan, A ;

Sougnez, C ;

Stange-Thomann, N ;

Stojanovic, N ;

Subramanian, A ;

Wyman, D ;

Rogers, J ;

Sulston, J ;

Ainscough, R ;

Beck, S ;

Bentley, D ;

Burton, J ;

Clee, C ;

Carter, N ;

Coulson, A ;

Deadman, R ;

Deloukas, P ;

Dunham, A ;

Dunham, I ;

Durbin, R ;

French, L .

NATURE, 2001, 409 (6822) :860-921

[9]

Alpha-cardiac actin mutations produce atrial septal defects [J].

Matsson, Hans ;

Eason, Jacqueline ;

Bookwalter, Carol S. ;

Klar, Joakim ;

Gustavsson, Peter ;

Sunnegardh, Jan ;

Enell, Henrik ;

Jonzon, Anders ;

Vikkula, Miikka ;

Gutierrez, Ilse ;

Granados-Riveron, Javier ;

Pope, Mark ;

Bu'Lock, Frances ;

Cox, Jane ;

Robinson, Thelma E. ;

Song, Feifei ;

Brook, David J. ;

Marston, Steven ;

Trybus, Kathleen M. ;

Dahl, Niklas .

HUMAN MOLECULAR GENETICS, 2008, 17 (02) :256-265

[10]

Massively parallel sequencing and rare disease [J].

Ng, Sarah B. ;

Nickerson, Deborah A. ;

Bamshad, Michael J. ;

Shendure, Jay .

HUMAN MOLECULAR GENETICS, 2010, 19 :R119-R124