Article
Automating sequence-based detection and genotyping of SNPs from diploid samples.
Nature genetics - 1 Mar 2006
Stephens Matthew, Sloan James S, Robertson P D, Scheet Paul, Nickerson Deborah A
Abstract excerpt
The detection of sequence variation, for which DNA sequencing has emerged as the most sensitive and automated approach, forms the basis of all genetic analysis. Here we describe and illustrate an algorithm that accurately detects and genotypes SNPs from fluorescence-based sequence data. Because the algorithm focuses particularly on detecting SNPs through the identification of heterozygous individuals, it is...
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