an optimized procedure for the design and evaluation of ecotilling assays一个优化程序的设计和评价ecotilling化验.pdfVIP
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an optimized procedure for the design and evaluation of ecotilling assays一个优化程序的设计和评价ecotilling化验
BMC Genomics BioMed Central
Methodology article Open Access
An optimized procedure for the design and evaluation of Ecotilling
assays
Stefan Coassin, Anita Brandstätter and Florian Kronenberg*
Address: Division of Genetic Epidemiology; Department of Medical Genetics, Molecular and Clinical Pharmacology; Innsbruck Medical
University, Innsbruck, Austria
Email: Stefan Coassin - stefan.coassin@i-med.ac.at; Anita Brandstätter - anita.brandstaetter@i-med.ac.at;
Florian Kronenberg* - Florian.Kronenberg@i-med.ac.at
* Corresponding author
Published: 30 October 2008 Received: 13 June 2008
Accepted: 30 October 2008
BMC Genomics 2008, 9:510 doi:10.1186/1471-2164-9-510
This article is available from: /1471-2164/9/510
© 2008 Coassin et al; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Background: Single nucleotide polymorphisms (SNPs) are the most common form of genetic
variability in the human genome and play a prominent role in the heritability of phenotypes.
Especially rare alleles with frequencies less than 5% may exhibit a particularly strong influence on
the development of complex diseases. The detection of rare alleles by standard DNA sequencing
is time-consuming and cost-intensive. Here we discuss an alternative
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