Article
Allelic ratios and the mutational landscape reveal biologically significant heterozygous SNVs.
Genetics - 1 Apr 2012
Chu Jeffrey S-C, Johnsen Robert C, Chua Shu Yi, Tu Domena, Dennison Mark, Marra Marco, Jones Steven J M, Baillie David L, Rose Ann M
Abstract excerpt
The issue of heterozygosity continues to be a challenge in the analysis of genome sequences. In this article, we describe the use of allele ratios to distinguish biologically significant single-nucleotide variants from background noise. An application of this approach is the identification of lethal mutations in Caenorhabditis elegans essential genes, which must be maintained by the presence of a wild-type allele...
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