Article
A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population.
Molecular genetics and metabolism - 1 Dec 2011
Pelleymounter Linda L, Moon Irene, Johnson Julie A, Laederach Alain, Halvorsen Matt, Eckloff Bruce, Abo Ryan, Rossetti Sandro
Abstract excerpt
The detection of single nucleotide polymorphisms (SNPs) and insertion/deletions (indels) with precision from high-throughput data remains a significant bioinformatics challenge. Accurate detection is necessary before next-generation sequencing can routinely be used in the clinic. In research, scientific advances are inhibited by gaps in data, exemplified by the underrepresented discovery of rare variants,...
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