SPLINTER (Short IN/DEL Prediction by Large deviation Inference and Non-linear True frequency Estimation by Recursion) is a software which detects and quantifies short IN/DELs as well as single nucleotide substitutions in pooled-DNA samples. SPLINTER can accurately detect rare variants in large pools, providing a novel and sensitive method that will allow for significant progress in the discovery of novel disease-causing rare variants from DNA pools of affected individuals, such as germ-line mutation discovery for breast and ovarian cancer patients.
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Genome Res. 2010 Dec;20(12):1711-8. doi: 10.1101/gr.109157.110.
High-throughput discovery of rare insertions and deletions in large cohorts.
Vallania FL, Druley TE, Ramos E, Wang J, Borecki I, Province M, Mitra RD.