English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Application of high-throughput sequencing for studying genomic variations in congenital heart disease

Dorn, C., Grunert, M., & Sperling, S. (2014). Application of high-throughput sequencing for studying genomic variations in congenital heart disease. Briefings in Functional Genomics, 13(1), 51-65. doi:Doi 10.1093/Bfgp/Elt040.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-D709-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-D71C-2
Genre: Journal Article

Files

show Files
hide Files
:
Dorn.pdf (Publisher version), 593KB
Name:
Dorn.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
2013
Copyright Info:
© The Author 2013. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com
License:
-

Locators

show

Creators

show
hide
 Creators:
Dorn, C.1, Author              
Grunert, Marcel1, Author              
Sperling, S.1, Author              
Affiliations:
1Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

Content

show
hide
Free keywords: next-generation sequencing congenital heart disease sequence variations variation filtering whole-exome datasets genomics copy-number variants short read alignment de-novo mutations stem-cell models wide association gene-expression cardiovascular-disease structural variation missense mutations deletion syndrome
 Abstract: Congenital heart diseases (CHD) represent the most common birth defect in human. The majority of cases are caused by a combination of complex genetic alterations and environmental influences. In the past, many disease-causing mutations have been identified; however, there is still a large proportion of cardiac malformations with unknown precise origin. High-throughput sequencing technologies established during the last years offer novel opportunities to further study the genetic background underlying the disease. In this review, we provide a roadmap for designing and analyzing high-throughput sequencing studies focused on CHD, but also with general applicability to other complex diseases. The three main next-generation sequencing (NGS) platforms including their particular advantages and disadvantages are presented. To identify potentially disease-related genomic variations and genes, different filtering steps and gene prioritization strategies are discussed. In addition, available control datasets based on NGS are summarized. Finally, we provide an overview of current studies already using NGS technologies and showing that these techniques will help to further unravel the complex genetics underlying CHD.

Details

show
hide
Language(s): eng - English
 Dates: 2013-10-032014
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: Other: WOS:000330834500006
DOI: Doi 10.1093/Bfgp/Elt040
ISSN: 2041-2649
URI: ://WOS:000330834500006http://bfg.oxfordjournals.org/content/13/1/51.full.pdf
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Briefings in Functional Genomics
  Alternative Title : Brief Funct Genomics
  Alternative Title : Special Issue: Functional genomics of cardiac development and disease
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Oxford : Oxford University Press
Pages: - Volume / Issue: 13 (1) Sequence Number: - Start / End Page: 51 - 65 Identifier: -