An optimized procedure for the design and evaluation of Ecotilling assays.

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 approach for a high throughput detection of rare mutations in large population samples using Ecotilling embedded in a collection of bioinformatic analysis tools. Ecotilling originally was introduced as TILLING for the screening for rare chemically induced mutations in plants and later adopted for human samples, showing an outstanding suitability f

SUBMITTER: Coassin S 

PROVIDER: S-EPMC2586031 | biostudies-literature | 2008 Oct

REPOSITORIES: biostudies-literature