Article
A cross-sample statistical model for SNP detection in short-read sequencing data.
Nucleic acids research - 1 Jan 2012
Muralidharan Omkar, Natsoulis Georges, Bell John, Newburger Daniel, Xu Hua, Kela Itai, Ji Hanlee, Zhang Nancy
Abstract excerpt
Highly multiplex DNA sequencers have greatly expanded our ability to survey human genomes for previously unknown single nucleotide polymorphisms (SNPs). However, sequencing and mapping errors, though rare, contribute substantially to the number of false discoveries in current SNP callers. We demonstrate that we can significantly reduce the number of false positive SNP calls by pooling information across samples....
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