Article
A probabilistic approach for SNP discovery in high-throughput human resequencing data.
Genome research - 1 Sept 2009
Hoberman Rose, Dias Joana, Ge Bing, Harmsen Eef, Mayhew Michael, Verlaan Dominique J, Kwan Tony, Dewar Ken, Blanchette Mathieu, Pastinen Tomi
Abstract excerpt
New high-throughput sequencing technologies are generating large amounts of sequence data, allowing the development of targeted large-scale resequencing studies. For these studies, accurate identification of polymorphic sites is crucial. Heterozygous sites are particularly difficult to identify, especially in regions of low coverage. We present a new strategy for identifying heterozygous sites in a single...
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