Article
PolyScan: an automatic indel and SNP detection approach to the analysis of human resequencing data.
Genome research - 1 May 2007
Chen Ken, McLellan Michael D, Ding Li, Wendl Michael C, Kasai Yumi, Wilson Richard K, Mardis Elaine R
Abstract excerpt
Small insertions and deletions (indels) and single nucleotide polymorphisms (SNPs) are common genetic variants that are thought to be associated with a wide variety of human diseases. Owing to the genome's size and complexity, manually characterizing each one of these variations in an individual is not practical. While significant progress has been made in automated single-base mutation discovery from the...
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